Variant report

Variant	rs7971581
Chromosome Location	chr12:106860662-106860663
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10047654	1.00[ASN][1000 genomes]
rs10444532	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10507211	0.80[ASN][1000 genomes]
rs10746059	0.80[ASN][1000 genomes]
rs10746060	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778464	0.81[ASN][1000 genomes]
rs10778465	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778466	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778468	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778469	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778470	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778471	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778473	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778474	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778475	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778476	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10778477	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10778478	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778480	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778481	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10778485	0.84[AMR][1000 genomes]
rs10861577	0.81[EUR][1000 genomes]
rs10861578	0.81[EUR][1000 genomes]
rs10861579	0.81[EUR][1000 genomes]
rs10861580	0.92[ASN][1000 genomes]
rs10861581	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861582	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861583	0.80[ASN][1000 genomes]
rs10861585	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861586	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10861587	0.80[ASN][1000 genomes]
rs10861589	0.92[ASN][1000 genomes]
rs10861590	1.00[ASN][1000 genomes]
rs10861591	1.00[ASN][1000 genomes]
rs10861592	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861593	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861594	1.00[ASN][1000 genomes]
rs10861595	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861597	1.00[ASN][1000 genomes]
rs10861598	1.00[ASN][1000 genomes]
rs10861599	1.00[ASN][1000 genomes]
rs10861601	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861604	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861605	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861608	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10861609	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10861613	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10861614	0.81[EUR][1000 genomes]
rs11112940	0.81[ASN][1000 genomes]
rs11112942	0.81[ASN][1000 genomes]
rs11112943	0.81[ASN][1000 genomes]
rs11112945	0.81[EUR][1000 genomes]
rs11112948	0.81[ASN][1000 genomes]
rs11112949	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112951	0.80[ASN][1000 genomes]
rs11112952	0.80[ASN][1000 genomes]
rs11112953	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112957	0.92[ASN][1000 genomes]
rs11112961	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112971	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112979	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112980	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112986	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112990	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112991	0.88[ASN][1000 genomes]
rs11112992	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112993	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112995	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11113003	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11113004	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11113009	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1134577	0.81[ASN][1000 genomes]
rs11609315	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11611176	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11611252	1.00[ASN][1000 genomes]
rs11611815	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11615682	0.92[ASN][1000 genomes]
rs11835357	1.00[ASN][1000 genomes]
rs11835362	0.88[ASN][1000 genomes]
rs12298876	1.00[ASN][1000 genomes]
rs12305705	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309708	1.00[ASN][1000 genomes]
rs12309758	1.00[ASN][1000 genomes]
rs12312915	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322877	0.89[ASN][1000 genomes]
rs12422988	0.81[ASN][1000 genomes]
rs12423068	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12425459	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17038414	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17221107	0.87[AFR][1000 genomes]
rs17284674	0.81[ASN][1000 genomes]
rs17285274	0.82[EUR][1000 genomes]
rs1921952	0.81[ASN][1000 genomes]
rs2141774	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2141775	0.92[ASN][1000 genomes]
rs2243455	0.81[ASN][1000 genomes]
rs2288268	0.87[AMR][1000 genomes]
rs2374606	0.88[ASN][1000 genomes]
rs2374610	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28475238	0.83[AMR][1000 genomes]
rs28669886	0.81[ASN][1000 genomes]
rs2888888	0.81[ASN][1000 genomes]
rs2900499	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2900500	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34955444	0.80[ASN][1000 genomes]
rs3851631	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851632	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851633	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522273	0.84[AMR][1000 genomes]
rs4625578	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55678155	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55689816	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58297001	0.81[ASN][1000 genomes]
rs58767490	0.81[ASN][1000 genomes]
rs60224628	0.81[ASN][1000 genomes]
rs60635749	1.00[ASN][1000 genomes]
rs61940334	0.81[ASN][1000 genomes]
rs61940335	0.81[ASN][1000 genomes]
rs61940342	0.81[ASN][1000 genomes]
rs61941917	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61941918	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941920	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941921	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941922	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61941943	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61941944	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61943670	0.81[EUR][1000 genomes]
rs61943672	0.80[ASN][1000 genomes]
rs61943690	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61943693	0.84[ASN][1000 genomes]
rs61943694	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539268	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539269	1.00[ASN][1000 genomes]
rs6539270	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6539271	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67911933	0.92[ASN][1000 genomes]
rs67966244	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7132971	0.81[ASN][1000 genomes]
rs7134615	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134881	0.84[ASN][1000 genomes]
rs7135054	0.80[ASN][1000 genomes]
rs7136098	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7137445	1.00[ASN][1000 genomes]
rs7139139	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139249	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7297873	1.00[ASN][1000 genomes]
rs7298062	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7298462	0.80[ASN][1000 genomes]
rs7303873	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306012	0.81[ASN][1000 genomes]
rs7306277	1.00[ASN][1000 genomes]
rs7306326	1.00[ASN][1000 genomes]
rs7307711	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7308541	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309020	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310703	0.80[ASN][1000 genomes]
rs7311957	0.92[ASN][1000 genomes]
rs7313040	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7315549	1.00[ASN][1000 genomes]
rs7961133	0.81[ASN][1000 genomes]
rs7963213	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7965520	1.00[ASN][1000 genomes]
rs7969743	1.00[ASN][1000 genomes]
rs7976305	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106813000-106864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106813200-106864800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:106824800-106866400	Weak transcription	NHLF	lung
4	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:106829000-106867200	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:106830400-106864600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:106830400-106865800	Weak transcription	K562	blood
8	chr12:106833000-106864400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:106840000-106864600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:106841800-106865000	Weak transcription	A549	lung
11	chr12:106846400-106864000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:106846400-106864600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:106851000-106864800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:106851800-106864600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:106852600-106867200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:106853200-106860800	Weak transcription	HMEC	breast
17	chr12:106853400-106865000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:106853400-106886400	Weak transcription	Fetal Kidney	kidney
19	chr12:106853600-106864000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:106853600-106864800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:106854000-106864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:106854000-106864600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:106854000-106865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:106854200-106864600	Weak transcription	Fetal Brain Female	brain
25	chr12:106854200-106886800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:106854400-106863600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:106854400-106864800	Weak transcription	Dnd41	blood
28	chr12:106854400-106865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:106854400-106865400	Weak transcription	Brain Substantia Nigra	brain
30	chr12:106854400-106874000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:106854400-106904800	Weak transcription	HSMM	muscle
32	chr12:106854600-106872000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:106854600-106899800	Weak transcription	Fetal Thymus	thymus
34	chr12:106854800-106864800	Weak transcription	Fetal Lung	lung
35	chr12:106854800-106867000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:106854800-106874800	Weak transcription	HepG2	liver
37	chr12:106855000-106864800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:106855400-106865200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:106855600-106861400	Weak transcription	Hela-S3	cervix
40	chr12:106855800-106864400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:106855800-106865600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:106855800-106895600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:106855800-106896200	Weak transcription	Thymus	Thymus
44	chr12:106856000-106864200	Weak transcription	Fetal Intestine Large	intestine
45	chr12:106856000-106864400	Weak transcription	Primary B cells from cord blood	blood
46	chr12:106856000-106864400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:106856000-106864600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:106856000-106864600	Weak transcription	Gastric	stomach
49	chr12:106856000-106864600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:106856000-106864800	Weak transcription	Colonic Mucosa	Colon

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