Variant report

Variant	rs6994300
Chromosome Location	chr8:102569817-102569818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102569193..102571476-chr8:103666400..103668320,2	MCF-7	breast:
2	chr8:102567759..102570730-chr8:102585094..102586847,2	MCF-7	breast:
3	chr8:102569718..102571436-chr8:102646624..102648953,2	MCF-7	breast:
4	chr8:102569075..102570953-chr8:102573725..102575787,2	MCF-7	breast:
5	chr8:102568954..102571543-chr8:102577396..102579070,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155090	Chromatin interaction
ENSG00000253153	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58232071	1.00[EUR][1000 genomes]
rs60731358	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60932017	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461143	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv891230	chr8:102569309-102604306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102551400-102577400	Weak transcription	Fetal Stomach	stomach
2	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:102553000-102573600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:102554200-102570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:102554400-102570400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:102557200-102570600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:102557400-102577400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:102557600-102570600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:102564800-102570400	Weak transcription	Gastric	stomach
10	chr8:102565600-102582800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:102566000-102582800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:102566200-102572600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:102566600-102570200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:102566600-102570200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:102566600-102570400	Weak transcription	Placenta	Placenta
16	chr8:102566600-102570400	Weak transcription	NHEK	skin
17	chr8:102566600-102585600	Weak transcription	Pancreas	Pancrea
18	chr8:102566800-102570400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:102567400-102575600	Weak transcription	HMEC	breast
20	chr8:102567800-102571800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:102568200-102570000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:102568600-102570200	Weak transcription	Esophagus	oesophagus
23	chr8:102569000-102570400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:102569200-102570400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:102569200-102570600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:102569200-102582800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:102569600-102572600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:102569600-102574800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:102569800-102570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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