Variant report

Variant	rs3902813
Chromosome Location	chr12:104875480-104875481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104849668..104855401-chr12:104869919..104879346,13	K562	blood:
2	chr12:104849472..104852370-chr12:104873172..104875509,2	K562	blood:
3	chr12:104873432..104875750-chr12:104876830..104879397,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10778336	0.86[ASN][1000 genomes]
rs11112078	0.89[ASN][1000 genomes]
rs1882492	0.96[EUR][1000 genomes]
rs1882493	0.95[EUR][1000 genomes]
rs2103391	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34760349	0.92[EUR][1000 genomes]
rs3902812	0.98[EUR][1000 genomes]
rs4964811	0.83[EUR][1000 genomes]
rs6539155	0.87[ASN][1000 genomes]
rs7133503	0.88[ASN][1000 genomes]
rs7312273	0.83[EUR][1000 genomes]
rs7485263	0.84[EUR][1000 genomes]
rs7956477	0.86[ASN][1000 genomes]
rs7971806	0.94[EUR][1000 genomes]
rs7976717	0.98[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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104859200-104879800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:104863400-104879200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104866600-104882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:104867600-104876200	Weak transcription	Colonic Mucosa	Colon
5	chr12:104867600-104879400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:104867600-104879600	Weak transcription	Fetal Brain Female	brain
7	chr12:104869200-104879400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:104870600-104879200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:104871000-104879200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:104871400-104876400	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:104872400-104876200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:104872600-104875600	Enhancers	HUVEC	blood vessel
14	chr12:104872600-104878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:104872600-104879200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:104872600-104879200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:104872600-104882400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:104872800-104876200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:104872800-104876800	Genic enhancers	Primary hematopoietic stem cells	blood
20	chr12:104872800-104876800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:104872800-104879200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:104872800-104879600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:104872800-104879600	Weak transcription	Right Atrium	heart
24	chr12:104872800-104879800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:104872800-104880600	Weak transcription	Stomach Mucosa	stomach
26	chr12:104872800-104883000	Enhancers	Primary B cells from peripheral blood	blood
27	chr12:104872800-104887000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:104873000-104878800	Enhancers	Primary T cells from cord blood	blood
29	chr12:104873000-104879200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:104873000-104887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:104873200-104879200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:104873200-104879600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:104873800-104876400	Weak transcription	Small Intestine	intestine
35	chr12:104873800-104877000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:104873800-104878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:104873800-104879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:104873800-104880800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:104874200-104879200	Weak transcription	Esophagus	oesophagus
40	chr12:104874400-104875600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:104874400-104875600	Enhancers	NH-A	brain
42	chr12:104874400-104876400	Genic enhancers	Primary B cells from cord blood	blood
43	chr12:104874400-104877200	Genic enhancers	Fetal Thymus	thymus
44	chr12:104874600-104877800	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr12:104874600-104879200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:104874800-104878000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:104874800-104878400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:104874800-104879600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:104874800-104879600	Weak transcription	Brain Germinal Matrix	brain
50	chr12:104874800-104880000	Weak transcription	Aorta	Aorta

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