Variant report

Variant	rs10744631
Chromosome Location	chr12:4250359-4250360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4244218..4247672-chr12:4248422..4253383,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10459129	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774197	0.92[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs10774198	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10848981	0.92[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs10848982	0.84[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs10848985	0.91[ASN][1000 genomes]
rs10848986	0.83[EUR][1000 genomes]
rs10848988	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10848989	0.84[AFR][1000 genomes]
rs11063002	0.91[ASN][1000 genomes]
rs11063011	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063012	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861175	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1978311	0.86[EUR][1000 genomes]
rs2003578	0.91[ASN][1000 genomes]
rs2003579	0.91[ASN][1000 genomes]
rs6489519	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7137733	0.83[EUR][1000 genomes]
rs7304518	0.83[EUR][1000 genomes]
rs759310	0.86[EUR][1000 genomes]
rs7967520	0.91[ASN][1000 genomes]
rs873613	0.91[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4227200-4252000	Weak transcription	Pancreas	Pancrea
2	chr12:4243200-4250600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:4243600-4255200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:4244800-4253200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:4245200-4251800	Weak transcription	Fetal Intestine Large	intestine
6	chr12:4245600-4251600	Weak transcription	NHEK	skin
7	chr12:4245800-4251400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:4245800-4251600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:4245800-4251800	Weak transcription	HSMM	muscle
10	chr12:4245800-4252000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:4245800-4252000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:4246000-4251800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:4246200-4251200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:4246200-4251600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:4246200-4251600	Weak transcription	Fetal Intestine Small	intestine
16	chr12:4246200-4251600	Weak transcription	Spleen	Spleen
17	chr12:4246800-4251200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:4246800-4257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:4247200-4250600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:4248400-4251600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr12:4248400-4251800	Enhancers	Fetal Thymus	thymus
22	chr12:4248400-4251800	Enhancers	GM12878-XiMat	blood
23	chr12:4248600-4250800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:4248600-4250800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:4248600-4251400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:4248800-4251600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:4248800-4251800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr12:4249000-4250400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:4249000-4250400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:4249000-4251600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:4249000-4252000	Enhancers	Fetal Muscle Trunk	muscle
32	chr12:4249200-4250400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:4249200-4251000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:4249200-4251200	Enhancers	Brain Germinal Matrix	brain
35	chr12:4249200-4251800	Enhancers	Fetal Stomach	stomach
36	chr12:4249200-4252000	Enhancers	Fetal Muscle Leg	muscle
37	chr12:4249400-4250400	Weak transcription	Primary B cells from cord blood	blood
38	chr12:4249400-4251000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:4249600-4250600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:4249600-4250600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:4249600-4250600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:4249600-4251000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:4249600-4251800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:4249600-4251800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:4249600-4252200	Enhancers	Fetal Brain Male	brain
46	chr12:4249800-4250600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr12:4249800-4250800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:4249800-4250800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:4249800-4250800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:4249800-4251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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