Variant report

Variant	rs10743766
Chromosome Location	chr12:31909908-31909909
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:
2	chr12:31902284..31904041-chr12:31909797..31911614,2	K562	blood:
3	chr12:31880356..31882113-chr12:31908651..31911633,2	K562	blood:
4	chr12:31901665..31904041-chr12:31908599..31911297,2	K562	blood:

Variant related genes	Relation type
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10771867	1.00[AMR][1000 genomes]
rs1351766	1.00[AMR][1000 genomes]
rs4931551	1.00[AMR][1000 genomes]
rs4931553	1.00[AMR][1000 genomes]
rs56083738	1.00[AMR][1000 genomes]
rs57444174	1.00[AMR][1000 genomes]
rs59519392	1.00[AMR][1000 genomes]
rs7308880	1.00[AMR][1000 genomes]
rs74071607	1.00[AMR][1000 genomes]
rs74073227	1.00[AMR][1000 genomes]
rs7954354	1.00[AMR][1000 genomes]
rs7979437	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv8940	chr12:31899904-31987363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	esv2421936	chr12:31900550-31909908	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv2760910	chr12:31900550-31909908	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv558103	chr12:31900550-31909908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv558104	chr12:31900550-31910908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv558105	chr12:31900550-31912588	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv558106	chr12:31900550-31914143	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv558107	chr12:31900550-31919188	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	esv1836353	chr12:31903771-31912588	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	esv1841335	chr12:31903771-31912588	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv818904	chr12:31903771-31912588	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv515490	chr12:31903771-31919188	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	esv11695	chr12:31904381-31911808	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	esv3327147	chr12:31905485-31913483	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	esv3347224	chr12:31905935-31913433	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv820402	chr12:31906637-31912735	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	nsv826311	chr12:31906637-31912735	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	esv3485509	chr12:31906648-31912232	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	esv3485520	chr12:31906671-31912164	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv558109	chr12:31906672-31909908	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	nsv558110	chr12:31906672-31910909	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	esv3485531	chr12:31906692-31912158	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	esv3485497	chr12:31906699-31912204	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	esv18187	chr12:31906705-31911808	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
39	nsv558111	chr12:31906715-31910908	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
40	nsv558112	chr12:31906715-31910909	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
41	esv3485542	chr12:31906768-31912132	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
42	esv3433595	chr12:31906778-31912135	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
43	esv3485553	chr12:31906782-31912133	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
44	esv1834744	chr12:31907234-31910009	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
45	esv1835785	chr12:31907234-31910009	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
46	esv1836140	chr12:31907234-31910009	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
47	esv1838326	chr12:31907234-31910009	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
48	esv1841702	chr12:31907234-31910009	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
49	nsv558116	chr12:31907274-31910009	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
50	nsv558117	chr12:31907274-31910908	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31902600-31912800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:31903600-31912800	Weak transcription	Gastric	stomach
3	chr12:31905400-31912200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:31905400-31912800	Weak transcription	HepG2	liver
5	chr12:31905800-31910800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:31905800-31912200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:31906400-31912200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:31908600-31911000	Enhancers	Fetal Intestine Large	intestine
9	chr12:31908600-31911000	Enhancers	Fetal Intestine Small	intestine
10	chr12:31908800-31910000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:31908800-31910600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:31908800-31912800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:31909600-31910400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr12:31909600-31910400	Enhancers	A549	lung
15	chr12:31909600-31910400	Enhancers	GM12878-XiMat	blood
16	chr12:31909600-31910400	Enhancers	HMEC	breast
17	chr12:31909600-31911000	Enhancers	Hela-S3	cervix
18	chr12:31909800-31910000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:31909800-31910000	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:31909800-31910000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr12:31909800-31910000	Enhancers	Small Intestine	intestine
22	chr12:31909800-31910200	Enhancers	HUVEC	blood vessel
23	chr12:31909800-31910200	Enhancers	K562	blood
24	chr12:31909800-31910400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:31909800-31910400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:31909800-31910400	Enhancers	NHEK	skin
27	chr12:31909800-31910600	Enhancers	Placenta	Placenta
28	chr12:31909800-31910600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:31909800-31910800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:31909800-31910800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:31909800-31913400	Enhancers	Stomach Mucosa	stomach

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