Variant report

Variant	rs6998812
Chromosome Location	chr8:110375378-110375379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110374980..110376608-chr8:110402670..110404308,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12541569	0.91[YRI][hapmap]
rs12543415	0.91[YRI][hapmap]
rs61741363	1.00[AMR][1000 genomes]
rs6469258	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6469259	0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6996280	1.00[AMR][1000 genomes]
rs7000579	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs7008100	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs73309408	1.00[AMR][1000 genomes]
rs7834361	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][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	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891279	chr8:110268104-110450092	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3324923	chr8:110370872-110377960	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110374000-110375400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:110374000-110375600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:110374200-110375400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
4	chr8:110374200-110375400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr8:110374200-110375600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:110374400-110375400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:110374400-110375400	Bivalent/Poised TSS	Colonic Mucosa	Colon
8	chr8:110374800-110375400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
9	chr8:110374800-110375400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr8:110375000-110375400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:110375000-110375400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
12	chr8:110375000-110375400	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr8:110375000-110379800	Weak transcription	Gastric	stomach
14	chr8:110375200-110375400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr8:110375200-110375400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr8:110375200-110375400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:110375200-110375400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:110375200-110375400	Bivalent Enhancer	Liver	Liver
19	chr8:110375200-110375400	Bivalent Enhancer	Fetal Heart	heart
20	chr8:110375200-110375400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
21	chr8:110375200-110375400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
22	chr8:110375200-110375400	Active TSS	Right Atrium	heart
23	chr8:110375200-110375400	Enhancers	Right Ventricle	heart
24	chr8:110375200-110375400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:110375200-110375400	Bivalent Enhancer	Stomach Mucosa	stomach
26	chr8:110375200-110375400	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:110375200-110375600	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr8:110375200-110375600	Bivalent Enhancer	Left Ventricle	heart
29	chr8:110375200-110375600	Flanking Active TSS	K562	blood
30	chr8:110375200-110380000	Weak transcription	HUVEC	blood vessel
31	chr8:110375200-110381400	Weak transcription	Pancreas	Pancrea

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