Variant report

Variant	rs6593747
Chromosome Location	chr1:146691705-146691706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:146691389..146692900-chr1:146693997..146696816,2	K562	blood:

Variant related genes	Relation type
ENSG00000236806	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10453880	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10751403	1.00[ASN][1000 genomes]
rs10751404	1.00[ASN][1000 genomes]
rs10793659	1.00[ASN][1000 genomes]
rs10793660	1.00[ASN][1000 genomes]
rs10793662	1.00[ASN][1000 genomes]
rs10900323	1.00[ASN][1000 genomes]
rs10900324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10900325	0.96[AFR][1000 genomes]
rs10900334	1.00[ASN][1000 genomes]
rs10900335	1.00[ASN][1000 genomes]
rs11239937	1.00[ASN][1000 genomes]
rs11239944	0.96[AFR][1000 genomes]
rs1372819	1.00[ASN][1000 genomes]
rs1442759	1.00[ASN][1000 genomes]
rs1530335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530337	1.00[ASN][1000 genomes]
rs1561879	1.00[ASN][1000 genomes]
rs1561880	1.00[ASN][1000 genomes]
rs1822306	1.00[ASN][1000 genomes]
rs1822311	1.00[ASN][1000 genomes]
rs1822312	1.00[ASN][1000 genomes]
rs1890036	1.00[ASN][1000 genomes]
rs1890037	1.00[ASN][1000 genomes]
rs1890039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899484	1.00[ASN][1000 genomes]
rs2120003	0.96[AFR][1000 genomes]
rs2120004	1.00[ASN][1000 genomes]
rs2120005	1.00[ASN][1000 genomes]
rs2165743	0.96[AFR][1000 genomes]
rs2354432	0.96[AFR][1000 genomes]
rs2354433	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2354434	1.00[ASN][1000 genomes]
rs4245679	1.00[ASN][1000 genomes]
rs4950310	1.00[ASN][1000 genomes]
rs4950381	1.00[ASN][1000 genomes]
rs4950385	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950386	1.00[ASN][1000 genomes]
rs4950394	1.00[ASN][1000 genomes]
rs56859828	1.00[ASN][1000 genomes]
rs571183	1.00[ASN][1000 genomes]
rs572109	1.00[ASN][1000 genomes]
rs6593746	1.00[ASN][1000 genomes]
rs6593753	1.00[ASN][1000 genomes]
rs6593754	1.00[ASN][1000 genomes]
rs6660219	0.88[AFR][1000 genomes]
rs6660409	0.88[AFR][1000 genomes]
rs6667498	1.00[ASN][1000 genomes]
rs6682309	1.00[ASN][1000 genomes]
rs6683215	1.00[ASN][1000 genomes]
rs6697092	1.00[ASN][1000 genomes]
rs6703847	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72999607	1.00[ASN][1000 genomes]
rs72999651	1.00[ASN][1000 genomes]
rs7514864	0.96[AFR][1000 genomes]
rs7517150	1.00[ASN][1000 genomes]
rs7523812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523954	1.00[ASN][1000 genomes]
rs7531878	1.00[ASN][1000 genomes]
rs7535394	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7537279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546434	1.00[ASN][1000 genomes]
rs7547279	1.00[ASN][1000 genomes]
rs7552487	0.84[AFR][1000 genomes]
rs7552601	1.00[ASN][1000 genomes]
rs7553584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555913	1.00[ASN][1000 genomes]
rs894467	1.00[ASN][1000 genomes]
rs894469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894470	1.00[ASN][1000 genomes]
rs894471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894472	1.00[ASN][1000 genomes]
rs894473	1.00[ASN][1000 genomes]
rs920682	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	nsv872258	chr1:146662018-146709784	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	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
29	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146649800-146695400	Weak transcription	Left Ventricle	heart
2	chr1:146658800-146695400	Weak transcription	Lung	lung
3	chr1:146659000-146695200	Weak transcription	Ovary	ovary
4	chr1:146671400-146694400	Weak transcription	Brain Substantia Nigra	brain
5	chr1:146672800-146696400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:146674200-146696600	Weak transcription	Brain Anterior Caudate	brain
7	chr1:146674400-146695400	Weak transcription	Right Ventricle	heart
8	chr1:146675000-146695000	Weak transcription	Fetal Stomach	stomach
9	chr1:146676800-146694800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:146676800-146696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:146678400-146696200	Weak transcription	Colonic Mucosa	Colon
12	chr1:146679800-146696600	Weak transcription	Primary T cells from cord blood	blood
13	chr1:146680600-146696400	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:146681200-146696400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:146681600-146691800	Genic enhancers	Liver	Liver
16	chr1:146681800-146696400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:146682800-146695400	Weak transcription	Spleen	Spleen
18	chr1:146683800-146696400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:146684000-146695400	Weak transcription	Small Intestine	intestine
20	chr1:146684000-146696400	Weak transcription	Adipose Nuclei	Adipose
21	chr1:146685200-146696600	Weak transcription	Aorta	Aorta
22	chr1:146685400-146695200	Weak transcription	Pancreas	Pancrea
23	chr1:146686000-146695200	Weak transcription	Gastric	stomach
24	chr1:146686600-146696400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:146687000-146695600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:146687200-146696400	Weak transcription	Primary B cells from cord blood	blood
27	chr1:146687200-146696400	Weak transcription	Fetal Intestine Large	intestine
28	chr1:146687400-146694800	Weak transcription	Fetal Lung	lung
29	chr1:146687400-146696400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:146687600-146694000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:146687600-146695400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:146688000-146695200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:146688000-146696400	Weak transcription	Fetal Intestine Small	intestine
34	chr1:146688400-146694400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:146688400-146695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:146688400-146695400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:146690800-146696400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:146691200-146692000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:146691200-146695400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:146691600-146693800	Transcr. at gene 5' and 3'	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links