Variant report

Variant	rs73701909
Chromosome Location	chr8:102514238-102514239
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102513353..102514317-chr8:102533738..102534540,5	MCF-7	breast:
2	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
3	chr8:102514177..102518015-chr8:102614637..102617886,5	MCF-7	breast:
4	chr8:102512147..102516211-chr8:102611218..102613960,3	MCF-7	breast:
5	chr8:102513814..102516595-chr8:102524555..102526490,2	K562	blood:
6	chr8:102513151..102515721-chr8:102516921..102520481,3	K562	blood:
7	chr8:102340534..102342467-chr8:102514047..102516934,2	MCF-7	breast:
8	chr8:102513989..102516811-chr8:103250501..103252743,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253644	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000228224	Chromatin interaction
ENSG00000271560	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000246263	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10087713	1.00[EUR][1000 genomes]
rs10089813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100857	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59219670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73701912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73701913	0.81[AFR][1000 genomes];1.00[EUR][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102507400-102526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102507600-102514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:102509200-102514400	Weak transcription	Esophagus	oesophagus
4	chr8:102509600-102516400	Weak transcription	Gastric	stomach
5	chr8:102509600-102516400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:102511800-102517400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:102512200-102514400	Weak transcription	Pancreas	Pancrea
8	chr8:102513000-102515000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:102513200-102514600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:102513200-102514800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:102513200-102514800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:102513200-102514800	Enhancers	Colon Smooth Muscle	Colon
13	chr8:102513200-102515200	Flanking Active TSS	NHEK	skin
14	chr8:102513400-102514600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:102513400-102514600	Enhancers	Fetal Intestine Small	intestine
16	chr8:102513400-102514800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:102513400-102515200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:102513400-102515200	Enhancers	Adipose Nuclei	Adipose
19	chr8:102513400-102516000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:102513600-102514400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:102513600-102514400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr8:102513600-102514400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr8:102513600-102514400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:102513600-102514400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr8:102513600-102514800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:102513800-102514400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:102513800-102514400	Enhancers	Fetal Intestine Large	intestine
28	chr8:102513800-102514600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:102513800-102514600	Enhancers	Brain Angular Gyrus	brain
30	chr8:102513800-102514600	Enhancers	Fetal Brain Male	brain
31	chr8:102513800-102515000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr8:102513800-102515800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:102513800-102517000	Weak transcription	Aorta	Aorta
34	chr8:102514000-102514400	Enhancers	Brain Anterior Caudate	brain
35	chr8:102514000-102514400	Enhancers	NHLF	lung
36	chr8:102514000-102514400	Enhancers	Osteobl	bone
37	chr8:102514000-102514600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:102514000-102514600	Weak transcription	Ovary	ovary
39	chr8:102514000-102514600	Enhancers	GM12878-XiMat	blood
40	chr8:102514000-102514800	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:102514000-102514800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr8:102514000-102515000	Enhancers	Fetal Lung	lung
43	chr8:102514000-102515000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:102514000-102515000	Enhancers	Stomach Mucosa	stomach
45	chr8:102514000-102515200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:102514000-102515200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:102514000-102515400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:102514000-102516400	Weak transcription	Placenta	Placenta
49	chr8:102514000-102516400	Enhancers	A549	lung
50	chr8:102514000-102516600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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