Variant report

Variant	rs4950313
Chromosome Location	chr1:146712455-146712456
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146637222..146651713-chr1:146712141..146718911,44	MCF-7	breast:
2	chr1:146550590..146559110-chr1:146711930..146718078,31	K562	blood:
3	chr1:146614774..146616366-chr1:146710035..146712761,2	K562	blood:
4	chr1:146638562..146647588-chr1:146711453..146720391,22	K562	blood:
5	chr1:146552515..146557737-chr1:146711619..146718083,31	K562	blood:
6	chr1:146640645..146647502-chr1:146711418..146719354,29	K562	blood:
7	chr1:146638044..146647556-chr1:146707628..146717159,48	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201142	Chromatin interaction
ENSG00000273071	Chromatin interaction
ENSG00000180867	Chromatin interaction
ENSG00000230832	Chromatin interaction
ENSG00000131791	Chromatin interaction
ENSG00000237188	Chromatin interaction
ENSG00000271721	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11239954	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239958	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800580	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12046706	0.89[EUR][1000 genomes]
rs12060046	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17159914	0.89[EUR][1000 genomes]
rs17159924	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17160050	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17160051	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17355474	0.82[AMR][1000 genomes]
rs17355509	0.82[AMR][1000 genomes]
rs17356184	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17356219	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17356233	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17356240	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17356492	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17360443	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1932977	0.91[EUR][1000 genomes]
rs1999820	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2083720	0.82[AMR][1000 genomes]
rs2354428	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28381168	0.81[AFR][1000 genomes]
rs28381210	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2883323	0.87[EUR][1000 genomes]
rs2883324	0.87[EUR][1000 genomes]
rs2883434	0.88[EUR][1000 genomes]
rs3737855	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766519	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3766520	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3766522	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4301678	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4373796	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4453096	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4568882	0.87[EUR][1000 genomes]
rs4593887	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4950308	0.81[AMR][1000 genomes]
rs4950315	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4950316	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4950318	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4950319	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4950371	0.81[AMR][1000 genomes]
rs4950379	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4950382	0.89[EUR][1000 genomes]
rs4950384	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4950389	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4950392	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4950409	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56080828	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6703892	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72691004	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72691012	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691016	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72691025	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72691032	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72691033	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72691041	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72691054	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72691090	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72691093	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72691095	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72691097	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72691098	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72691102	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692904	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692905	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692907	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692914	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692917	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692942	0.87[EUR][1000 genomes]
rs72692963	0.87[EUR][1000 genomes]
rs72692965	0.87[EUR][1000 genomes]
rs72692968	0.87[EUR][1000 genomes]
rs72692971	0.87[EUR][1000 genomes]
rs72692973	0.87[EUR][1000 genomes]
rs72692975	0.87[EUR][1000 genomes]
rs72692979	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72692980	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72706441	0.82[AMR][1000 genomes]
rs72708536	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7514970	0.81[AMR][1000 genomes]
rs7554833	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
4	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
7	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
10	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
15	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
17	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
19	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv872257	chr1:146643555-146724923	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	nsv437047	chr1:146643555-146841602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
22	nsv1005809	chr1:146647822-146886419	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv535134	chr1:146647822-146886419	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv1004849	chr1:146661516-147286826	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
25	nsv535135	chr1:146661516-147286826	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
26	nsv547676	chr1:146686228-146996047	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
27	nsv872259	chr1:146688941-146724923	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4950313	CHD1L	cis	Whole Blood	GTEx
rs4950313	RP11-337C18.8	cis	Thyroid	GTEx
rs4950313	CHD1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146707600-146713000	Enhancers	Fetal Intestine Large	intestine
2	chr1:146708800-146713600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:146709000-146713600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:146709200-146713600	Weak transcription	HMEC	breast
5	chr1:146709200-146713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:146709200-146714200	Weak transcription	Gastric	stomach
7	chr1:146709400-146713600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:146709400-146713800	Weak transcription	Colonic Mucosa	Colon
9	chr1:146709400-146713800	Weak transcription	Placenta	Placenta
10	chr1:146709400-146714000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:146709400-146714000	Weak transcription	Esophagus	oesophagus
12	chr1:146709400-146714200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:146710200-146712600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:146710200-146713400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:146710200-146713600	Weak transcription	Hela-S3	cervix
16	chr1:146710200-146713800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:146710600-146712600	Enhancers	Pancreas	Pancrea
18	chr1:146710800-146713200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:146711200-146713000	Enhancers	Fetal Kidney	kidney
20	chr1:146711200-146713600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:146711200-146713800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:146711400-146712600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:146711600-146712600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:146711600-146712600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:146711600-146712600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:146711600-146713000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:146711600-146713000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:146711600-146713400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:146711600-146713400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:146711600-146713400	Weak transcription	Stomach Mucosa	stomach
31	chr1:146711600-146713600	Weak transcription	A549	lung
32	chr1:146711600-146713800	Weak transcription	Fetal Lung	lung
33	chr1:146711800-146712600	Enhancers	Lung	lung
34	chr1:146711800-146713400	Enhancers	HepG2	liver
35	chr1:146712000-146712600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:146712000-146713200	Weak transcription	Liver	Liver
37	chr1:146712000-146713800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:146712200-146713400	Weak transcription	Fetal Intestine Small	intestine
39	chr1:146712400-146713600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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