Variant report

Variant	rs208297
Chromosome Location	chr12:121602027-121602028
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	chr12:121592630..121595667-chr12:121601270..121604261,3	K562	blood:
2	chr12:121600298..121602055-chr12:121628900..121630578,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10735074	1.00[AMR][1000 genomes]
rs1169716	1.00[AMR][1000 genomes]
rs1169719	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1169723	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1169724	1.00[AMR][1000 genomes]
rs1169810	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1180013	1.00[AMR][1000 genomes]
rs1180014	1.00[AMR][1000 genomes]
rs1180016	1.00[AMR][1000 genomes]
rs1186053	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1630178	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1653587	0.85[YRI][hapmap]
rs1653588	0.83[YRI][hapmap]
rs1653589	0.85[YRI][hapmap]
rs1653590	0.85[YRI][hapmap]
rs1653593	1.00[YRI][hapmap]
rs1653599	1.00[AMR][1000 genomes]
rs1653600	1.00[AMR][1000 genomes]
rs1653615	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718110	1.00[AMR][1000 genomes]
rs1718157	1.00[AMR][1000 genomes]
rs1794891	1.00[AMR][1000 genomes]
rs1794903	1.00[AMR][1000 genomes]
rs1796418	1.00[AMR][1000 genomes]
rs1975123	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs208281	1.00[AMR][1000 genomes]
rs208285	1.00[AMR][1000 genomes]
rs208286	1.00[AMR][1000 genomes]
rs2116500	1.00[AMR][1000 genomes]
rs2116501	1.00[AMR][1000 genomes]
rs2393848	1.00[AMR][1000 genomes]
rs2567982	0.85[YRI][hapmap]
rs2567983	1.00[AMR][1000 genomes]
rs2567998	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2568004	1.00[AMR][1000 genomes]
rs2668248	1.00[AMR][1000 genomes]
rs2686365	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs2686366	1.00[AMR][1000 genomes]
rs2686381	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2686383	1.00[AMR][1000 genomes]
rs2708094	1.00[AMR][1000 genomes]
rs2948125	1.00[AMR][1000 genomes]
rs3861796	1.00[AMR][1000 genomes]
rs512239	1.00[AMR][1000 genomes]
rs566496	1.00[AMR][1000 genomes]
rs584133	1.00[AMR][1000 genomes]
rs657647	1.00[AMR][1000 genomes]
rs672632	1.00[AMR][1000 genomes]
rs680700	1.00[AMR][1000 genomes]
rs682104	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
4	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
3	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:121583800-121603200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:121594000-121612600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
11	chr12:121594600-121605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:121595200-121606200	Strong transcription	Brain Angular Gyrus	brain
13	chr12:121596000-121614800	Weak transcription	Gastric	stomach
14	chr12:121596200-121602800	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr12:121596200-121603200	Weak transcription	Adipose Nuclei	Adipose
16	chr12:121596200-121603200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:121596200-121622200	Weak transcription	Esophagus	oesophagus
18	chr12:121596200-121625600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:121596200-121629000	Weak transcription	Left Ventricle	heart
20	chr12:121596400-121603400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:121596400-121606800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:121596400-121609000	Strong transcription	Brain Cingulate Gyrus	brain
23	chr12:121596400-121609400	Strong transcription	Brain Hippocampus Middle	brain
24	chr12:121596400-121610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:121596400-121634200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:121597600-121603600	Weak transcription	Fetal Intestine Small	intestine
27	chr12:121597800-121603000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:121597800-121606600	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:121597800-121625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:121598200-121604200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr12:121598400-121604800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:121598400-121605800	Strong transcription	Brain Substantia Nigra	brain
33	chr12:121598400-121606200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:121598600-121605400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:121598600-121610400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:121599000-121603200	Weak transcription	Aorta	Aorta
37	chr12:121599000-121603400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:121599000-121617200	Weak transcription	Fetal Stomach	stomach
39	chr12:121599600-121605600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:121599600-121606000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:121599800-121605800	Strong transcription	Ovary	ovary
42	chr12:121599800-121606600	Strong transcription	Liver	Liver
43	chr12:121600000-121605200	Strong transcription	Spleen	Spleen
44	chr12:121600000-121605400	Strong transcription	Primary T cells from cord blood	blood
45	chr12:121600000-121610200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:121600200-121604400	Strong transcription	Lung	lung
47	chr12:121600400-121602400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:121600600-121603400	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:121600600-121603400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:121600800-121603000	Weak transcription	Pancreas	Pancrea

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