Variant report

Variant	rs12612951
Chromosome Location	chr2:37786636-37786637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37779367..37783955-chr2:37786259..37791654,6	K562	blood:
2	chr2:37781860..37785625-chr2:37786304..37788972,4	K562	blood:
3	chr2:37785013..37788185-chr2:37797266..37800761,3	K562	blood:
4	chr2:37786608..37790547-chr2:37791244..37795872,7	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10168778	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10176881	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10181174	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10184801	0.85[EUR][1000 genomes]
rs10197948	0.85[EUR][1000 genomes]
rs10208172	0.85[EUR][1000 genomes]
rs11124590	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11124592	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11687796	0.85[EUR][1000 genomes]
rs11887848	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11888402	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11895388	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12615363	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13002383	0.84[ASN][1000 genomes]
rs13432740	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34369565	0.82[ASN][1000 genomes]
rs34752978	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35422160	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35574342	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35617918	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35745581	0.84[ASN][1000 genomes]
rs35990829	0.82[ASN][1000 genomes]
rs4233923	0.84[ASN][1000 genomes]
rs4404250	0.83[ASN][1000 genomes]
rs4670208	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670730	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544093	0.85[EUR][1000 genomes]
rs6710371	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6712065	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6730320	0.85[EUR][1000 genomes]
rs6733496	0.85[EUR][1000 genomes]
rs67348553	0.82[ASN][1000 genomes]
rs6747152	0.85[EUR][1000 genomes]
rs72795708	0.82[ASN][1000 genomes]
rs7557304	0.85[EUR][1000 genomes]
rs7560890	0.85[EUR][1000 genomes]
rs7564992	0.84[EUR][1000 genomes]
rs7587009	0.85[EUR][1000 genomes]
rs765372	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833814	chr2:37643132-37840247	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37779400-37787400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:37779400-37787800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37780200-37787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:37780200-37787600	Weak transcription	HMEC	breast
5	chr2:37780400-37787400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:37780400-37787600	Weak transcription	NHDF-Ad	bronchial
7	chr2:37780400-37788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:37780400-37788000	Weak transcription	NHEK	skin
9	chr2:37781400-37791200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:37782000-37787400	Weak transcription	Fetal Brain Male	brain
11	chr2:37782000-37789200	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:37782800-37788800	Weak transcription	Spleen	Spleen
13	chr2:37783200-37788200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:37783200-37788800	Weak transcription	Thymus	Thymus
15	chr2:37783400-37787400	Weak transcription	Fetal Thymus	thymus
16	chr2:37783400-37790800	Weak transcription	Primary T cells from cord blood	blood
17	chr2:37783400-37795600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:37784000-37789400	Enhancers	GM12878-XiMat	blood
19	chr2:37784800-37788400	Enhancers	K562	blood
20	chr2:37785000-37788200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:37785600-37786800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:37786000-37786800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:37786000-37786800	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:37786000-37787000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:37786200-37787600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:37786200-37788800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:37786600-37786800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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