Variant report

Variant	rs214694
Chromosome Location	chr12:47624427-47624428
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47623460..47626393-chr12:47631696..47633902,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs214700	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214704	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214707	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs214711	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2524344	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs832709	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs866881	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
2	chr12:47601800-47628400	Weak transcription	Esophagus	oesophagus
3	chr12:47610400-47628400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:47612400-47628400	Weak transcription	Placenta	Placenta
5	chr12:47617200-47628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:47617200-47628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:47617200-47629000	Weak transcription	NHEK	skin
8	chr12:47617400-47625400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:47617600-47626200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:47617800-47626800	Weak transcription	Lung	lung
11	chr12:47617800-47628400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:47617800-47628400	Weak transcription	Spleen	Spleen
13	chr12:47617800-47629400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:47617800-47631600	Weak transcription	Small Intestine	intestine
15	chr12:47617800-47632800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:47618000-47625600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:47618000-47627800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:47618000-47628400	Weak transcription	HMEC	breast
19	chr12:47618000-47629000	Weak transcription	Adipose Nuclei	Adipose
20	chr12:47618000-47629400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:47618400-47625400	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:47618600-47630000	Weak transcription	HSMM	muscle
23	chr12:47618600-47638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:47618800-47624800	Weak transcription	Fetal Intestine Large	intestine
25	chr12:47619000-47628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:47619000-47632800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:47619000-47643600	Weak transcription	Pancreas	Pancrea
28	chr12:47619600-47627600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:47619800-47627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:47620200-47625400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:47620200-47630200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:47620200-47632800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:47620400-47624800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:47620800-47625200	Weak transcription	Ovary	ovary
35	chr12:47621200-47628400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:47621800-47624600	Strong transcription	Primary T cells from cord blood	blood
37	chr12:47621800-47625000	Weak transcription	Fetal Intestine Small	intestine
38	chr12:47622000-47624600	Weak transcription	Primary B cells from cord blood	blood
39	chr12:47622000-47624800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:47622400-47626800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:47623400-47625000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:47623400-47625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:47623400-47631600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:47623600-47624600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:47623600-47624600	Strong transcription	A549	lung
46	chr12:47624000-47624600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:47624000-47624800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:47624200-47624800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:47624200-47625400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr12:47624200-47630000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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