Variant report

Variant	rs6985891
Chromosome Location	chr8:103921795-103921796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103895310..103896891-chr8:103919251..103921969,2	MCF-7	breast:
2	chr8:103874964..103877161-chr8:103921319..103923722,3	MCF-7	breast:
3	chr8:103914488..103917104-chr8:103917551..103922052,4	K562	blood:
4	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11986658	0.89[EUR][1000 genomes]
rs11989703	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12545210	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546520	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs16869830	1.00[YRI][hapmap]
rs2304344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs34239044	0.98[ASN][1000 genomes]
rs4734677	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58867349	0.98[ASN][1000 genomes]
rs62522580	0.89[EUR][1000 genomes]
rs62526531	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686911	0.89[EUR][1000 genomes]
rs7826791	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
4	chr8:103907800-103922600	Weak transcription	Gastric	stomach
5	chr8:103911000-103922000	Weak transcription	Aorta	Aorta
6	chr8:103911400-103922000	Weak transcription	Adipose Nuclei	Adipose
7	chr8:103911400-103922000	Weak transcription	Brain Substantia Nigra	brain
8	chr8:103911400-103922200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:103911400-103922200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:103911800-103922600	Weak transcription	Left Ventricle	heart
11	chr8:103911800-103922600	Weak transcription	Lung	lung
12	chr8:103912400-103922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:103913400-103922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:103913400-103929800	Weak transcription	Psoas Muscle	Psoas
15	chr8:103913600-103922600	Weak transcription	Spleen	Spleen
16	chr8:103915800-103922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:103915800-103922000	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:103915800-103922400	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:103915800-103922600	Weak transcription	Right Atrium	heart
20	chr8:103916000-103922000	Weak transcription	Fetal Lung	lung
21	chr8:103916000-103922000	Weak transcription	Ovary	ovary
22	chr8:103916000-103922800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:103916200-103922000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:103916400-103922200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:103917400-103922200	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:103917400-103922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:103917400-103925800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:103917600-103922200	Weak transcription	Fetal Stomach	stomach
29	chr8:103918800-103921800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:103918800-103922600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:103918800-103922600	Weak transcription	Pancreas	Pancrea
32	chr8:103919000-103921800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:103919000-103921800	Weak transcription	HSMMtube	muscle
34	chr8:103919000-103922000	Weak transcription	HepG2	liver
35	chr8:103919000-103922400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:103919000-103922600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:103919200-103921800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:103919200-103922400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:103919400-103922400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:103919800-103922000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:103919800-103922600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:103920000-103922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:103920600-103922600	Weak transcription	Small Intestine	intestine
44	chr8:103920600-103923600	Enhancers	HMEC	breast
45	chr8:103920600-103923800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:103920800-103922400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:103921000-103922000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:103921000-103922000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:103921000-103922000	Enhancers	NHDF-Ad	bronchial
50	chr8:103921000-103923600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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