Variant report

Variant	rs3812467
Chromosome Location	chr8:126302789-126302790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126291827..126293740-chr8:126301224..126303367,2	MCF-7	breast:
2	chr8:126298317..126304061-chr8:126440512..126444095,5	MCF-7	breast:
3	chr8:126302028..126304645-chr8:126442784..126445222,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16900538	1.00[ASW][hapmap];0.85[MEX][hapmap]
rs16900568	1.00[ASW][hapmap];0.85[MEX][hapmap]
rs17318327	1.00[YRI][hapmap]
rs55927076	0.94[ASN][1000 genomes]
rs6989594	1.00[ASW][hapmap];0.84[MEX][hapmap]
rs7007866	0.85[MEX][hapmap]
rs72722620	0.93[AFR][1000 genomes]
rs7816350	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.84[AMR][1000 genomes];0.97[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
3	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:126295400-126303200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:126298200-126306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:126298400-126303600	Weak transcription	Liver	Liver
7	chr8:126298400-126306600	Weak transcription	Psoas Muscle	Psoas
8	chr8:126298400-126312800	Weak transcription	Gastric	stomach
9	chr8:126299600-126302800	Enhancers	K562	blood
10	chr8:126299600-126304200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:126299800-126303200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:126300200-126303000	Enhancers	Fetal Heart	heart
13	chr8:126300400-126303000	Enhancers	HUVEC	blood vessel
14	chr8:126300600-126304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:126300600-126304400	Enhancers	HepG2	liver
16	chr8:126301000-126302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:126301200-126302800	Enhancers	A549	lung
18	chr8:126301200-126303000	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:126301200-126303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:126301200-126303000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:126301200-126303000	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:126301200-126303200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:126301200-126303200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr8:126301200-126303200	Enhancers	Brain Hippocampus Middle	brain
25	chr8:126301200-126303200	Enhancers	Fetal Intestine Small	intestine
26	chr8:126301200-126304400	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:126301400-126302800	Enhancers	Brain Angular Gyrus	brain
28	chr8:126301400-126303000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:126301400-126303000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:126301400-126303000	Enhancers	Brain Anterior Caudate	brain
31	chr8:126301400-126303000	Enhancers	Brain Substantia Nigra	brain
32	chr8:126301400-126303000	Enhancers	Thymus	Thymus
33	chr8:126301400-126303400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:126301400-126303400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:126301400-126307000	Enhancers	GM12878-XiMat	blood
36	chr8:126301600-126302800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:126301600-126303000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:126301600-126303200	Enhancers	Fetal Intestine Large	intestine
39	chr8:126301800-126302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:126301800-126302800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:126301800-126303000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:126301800-126304200	Weak transcription	Pancreas	Pancrea
43	chr8:126301800-126304200	Weak transcription	Spleen	Spleen
44	chr8:126301800-126307600	Weak transcription	Left Ventricle	heart
45	chr8:126301800-126309400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:126301800-126312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:126301800-126312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:126301800-126314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:126301800-126319600	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:126302000-126302800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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