Variant report

Variant	rs2230870
Chromosome Location	chr1:153512612-153512613
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153504209..153505838-chr1:153511280..153513163,2	K562	blood:
2	chr1:153510989..153512909-chr1:153598387..153600995,3	K562	blood:
3	chr1:153512598..153514775-chr1:153963105..153964823,2	K562	blood:
4	chr1:153511330..153514182-chr1:153601360..153604176,2	K562	blood:
5	chr1:153511083..153513930-chr1:153515986..153517623,2	K562	blood:

Variant related genes	Relation type
ENSG00000177954	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000196154	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11488667	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11973	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16835357	1.00[EUR][1000 genomes]
rs16835362	1.00[EUR][1000 genomes]
rs16835371	1.00[EUR][1000 genomes]
rs16835373	1.00[EUR][1000 genomes]
rs16835375	1.00[EUR][1000 genomes]
rs16835379	1.00[EUR][1000 genomes]
rs16835389	1.00[EUR][1000 genomes]
rs16835409	1.00[EUR][1000 genomes]
rs16835413	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16835417	1.00[EUR][1000 genomes]
rs2104500	1.00[EUR][1000 genomes]
rs28373144	1.00[EUR][1000 genomes]
rs28407716	1.00[EUR][1000 genomes]
rs28442251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451322	1.00[EUR][1000 genomes]
rs28456342	1.00[EUR][1000 genomes]
rs28485860	1.00[EUR][1000 genomes]
rs28510499	1.00[EUR][1000 genomes]
rs28578863	1.00[EUR][1000 genomes]
rs28587171	1.00[EUR][1000 genomes]
rs28605603	1.00[EUR][1000 genomes]
rs28634320	1.00[EUR][1000 genomes]
rs28645589	1.00[EUR][1000 genomes]
rs28648662	1.00[EUR][1000 genomes]
rs28690872	1.00[EUR][1000 genomes]
rs28694652	1.00[EUR][1000 genomes]
rs28709866	1.00[EUR][1000 genomes]
rs28784102	1.00[EUR][1000 genomes]
rs3014827	1.00[EUR][1000 genomes]
rs3856025	1.00[EUR][1000 genomes]
rs56140059	1.00[EUR][1000 genomes]
rs56255753	1.00[EUR][1000 genomes]
rs56401460	1.00[EUR][1000 genomes]
rs58529054	1.00[EUR][1000 genomes]
rs59209384	1.00[EUR][1000 genomes]
rs59617976	1.00[EUR][1000 genomes]
rs60219287	1.00[EUR][1000 genomes]
rs60460123	1.00[EUR][1000 genomes]
rs61038462	1.00[EUR][1000 genomes]
rs61131911	1.00[EUR][1000 genomes]
rs61148582	1.00[EUR][1000 genomes]
rs73009954	1.00[EUR][1000 genomes]
rs73011738	1.00[EUR][1000 genomes]
rs73020460	1.00[EUR][1000 genomes]
rs73020461	1.00[EUR][1000 genomes]
rs73020464	1.00[EUR][1000 genomes]
rs73020467	1.00[EUR][1000 genomes]
rs73020468	1.00[EUR][1000 genomes]
rs73020471	1.00[EUR][1000 genomes]
rs73020473	1.00[EUR][1000 genomes]
rs73020474	1.00[EUR][1000 genomes]
rs73020478	1.00[EUR][1000 genomes]
rs73020479	1.00[EUR][1000 genomes]
rs73020496	1.00[EUR][1000 genomes]
rs73020497	1.00[EUR][1000 genomes]
rs73024502	1.00[EUR][1000 genomes]
rs73026308	1.00[EUR][1000 genomes]
rs730347	1.00[EUR][1000 genomes]
rs74115477	1.00[EUR][1000 genomes]
rs74115478	1.00[EUR][1000 genomes]
rs74115489	1.00[EUR][1000 genomes]
rs746425	1.00[EUR][1000 genomes]
rs7518794	1.00[EUR][1000 genomes]
rs7528738	1.00[EUR][1000 genomes]
rs7543851	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
5	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153509200-153512800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:153509200-153514000	Enhancers	HMEC	breast
3	chr1:153509200-153515400	Weak transcription	Aorta	Aorta
4	chr1:153509200-153515600	Weak transcription	Fetal Kidney	kidney
5	chr1:153509200-153516800	Enhancers	Fetal Thymus	thymus
6	chr1:153509200-153517400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:153509400-153512800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:153509400-153513000	Weak transcription	GM12878-XiMat	blood
9	chr1:153509400-153513000	Weak transcription	Osteobl	bone
10	chr1:153509400-153513200	Weak transcription	Gastric	stomach
11	chr1:153509400-153515000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:153509400-153515200	Enhancers	NHEK	skin
13	chr1:153509400-153516800	Weak transcription	Right Atrium	heart
14	chr1:153509400-153517000	Weak transcription	HUVEC	blood vessel
15	chr1:153509400-153527600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:153509600-153515400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:153509600-153515400	Weak transcription	Left Ventricle	heart
18	chr1:153509600-153515400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:153509600-153515600	Weak transcription	Fetal Stomach	stomach
20	chr1:153509600-153517000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:153509800-153512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:153509800-153513000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:153509800-153514800	Weak transcription	Lung	lung
24	chr1:153509800-153515800	Weak transcription	Fetal Heart	heart
25	chr1:153509800-153515800	Weak transcription	Right Ventricle	heart
26	chr1:153510000-153513600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:153510600-153514800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:153510800-153512800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:153511200-153512800	Weak transcription	Placenta	Placenta
30	chr1:153511200-153513000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:153511200-153513400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:153511200-153514200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:153511200-153514600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:153511200-153515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:153511200-153516200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:153511200-153516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:153511200-153516800	Weak transcription	Pancreas	Pancrea
38	chr1:153511400-153512800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:153511400-153515200	Enhancers	Hela-S3	cervix
40	chr1:153511400-153516800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:153511400-153516800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:153511400-153517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:153511400-153517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:153511600-153513000	Weak transcription	Fetal Intestine Small	intestine
45	chr1:153511800-153513000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:153511800-153513800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:153511800-153514800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:153511800-153515400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:153511800-153516400	Enhancers	K562	blood
50	chr1:153512000-153512800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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