Variant report

Variant	rs2103391
Chromosome Location	chr12:104879273-104879274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
2	chr12:104849610..104851903-chr12:104877602..104879346,2	K562	blood:
3	chr12:104869578..104872458-chr12:104877687..104880614,4	K562	blood:
4	chr12:104849668..104855401-chr12:104869919..104879346,13	K562	blood:
5	chr12:104877368..104879475-chr12:104994945..104997533,2	K562	blood:
6	chr12:104877368..104879686-chr12:104993577..104996445,2	K562	blood:
7	chr12:104873432..104875750-chr12:104876830..104879397,2	MCF-7	breast:
8	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:
9	chr12:104871756..104873492-chr12:104876935..104879923,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171310	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10778336	0.83[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10861225	0.92[AFR][1000 genomes]
rs11112078	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1882492	0.96[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1882493	0.81[CHB][hapmap];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1882496	0.92[CEU][hapmap];0.80[GIH][hapmap]
rs1882497	0.92[CEU][hapmap];0.80[GIH][hapmap]
rs34760349	0.92[EUR][1000 genomes]
rs3902812	0.97[EUR][1000 genomes]
rs3902813	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964811	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6539155	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.81[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7133503	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7312273	0.92[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs7485263	0.96[CEU][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7956477	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7960741	0.81[TSI][hapmap]
rs7963874	0.81[TSI][hapmap]
rs7971806	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7976717	0.96[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.97[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:90 , 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	chr12:104866600-104882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:104867600-104879400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:104867600-104879600	Weak transcription	Fetal Brain Female	brain
5	chr12:104869200-104879400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:104872600-104882400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:104872800-104879600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:104872800-104879600	Weak transcription	Right Atrium	heart
10	chr12:104872800-104879800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:104872800-104880600	Weak transcription	Stomach Mucosa	stomach
12	chr12:104872800-104883000	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:104872800-104887000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:104873000-104887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:104873200-104879600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:104873800-104880800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:104874800-104879600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:104874800-104879600	Weak transcription	Brain Germinal Matrix	brain
20	chr12:104874800-104880000	Weak transcription	Aorta	Aorta
21	chr12:104875000-104879800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:104875000-104880400	Weak transcription	Osteobl	bone
23	chr12:104875000-104887000	Weak transcription	Placenta	Placenta
24	chr12:104875200-104879600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:104875200-104879600	Weak transcription	NHDF-Ad	bronchial
26	chr12:104875200-104879600	Weak transcription	NHLF	lung
27	chr12:104875200-104880200	Weak transcription	Fetal Stomach	stomach
28	chr12:104875200-104880600	Weak transcription	Adipose Nuclei	Adipose
29	chr12:104875200-104880800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:104875200-104882000	Weak transcription	Gastric	stomach
31	chr12:104875200-104882400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr12:104875200-104888000	Weak transcription	HMEC	breast
33	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:104875200-104897000	Weak transcription	NHEK	skin
35	chr12:104875400-104879800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:104875400-104880200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:104875400-104880200	Weak transcription	HSMM	muscle
38	chr12:104875400-104880600	Weak transcription	Fetal Intestine Small	intestine
39	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:104876800-104879800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:104876800-104880600	Weak transcription	A549	lung
42	chr12:104877000-104879600	Weak transcription	Colonic Mucosa	Colon
43	chr12:104877000-104879600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:104877000-104879800	Weak transcription	Small Intestine	intestine
45	chr12:104877000-104882000	Weak transcription	Fetal Lung	lung
46	chr12:104877200-104879400	Enhancers	Fetal Thymus	thymus
47	chr12:104877200-104879600	Weak transcription	Pancreas	Pancrea
48	chr12:104877400-104881600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:104877600-104879600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:104877600-104879800	Weak transcription	Rectal Mucosa Donor 31	rectum

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