Variant report

Variant	rs4734563
Chromosome Location	chr8:102646539-102646540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:102646483-102647031	MCF-7	breast:	n/a	n/a
2	CTCF	chr8:102646420-102646570	GM12873	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102620271..102621973-chr8:102646232..102648776,2	MCF-7	breast:
2	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
3	chr8:102447454..102450323-chr8:102645181..102647136,2	MCF-7	breast:
4	chr8:102612038..102613685-chr8:102646133..102647980,2	MCF-7	breast:
5	chr8:102617550..102620194-chr8:102645723..102647723,2	MCF-7	breast:
6	chr8:102579608..102581495-chr8:102645973..102648635,2	MCF-7	breast:
7	chr8:102643444..102646539-chr8:102648297..102653448,5	MCF-7	breast:
8	chr8:102578394..102580436-chr8:102646392..102647892,2	MCF-7	breast:
9	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

No data

Variant related genes	Relation type
GRHL2	TF binding region
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction

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

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

rs_ID	r²[population]
rs2030782	1.00[EUR][1000 genomes]
rs28362495	1.00[AFR][1000 genomes]
rs4339613	1.00[AFR][1000 genomes]
rs4734547	1.00[EUR][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	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:102636400-102647200	Weak transcription	HMEC	breast
3	chr8:102636400-102648200	Weak transcription	Fetal Lung	lung
4	chr8:102637200-102647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:102642400-102647000	Enhancers	Rectal Smooth Muscle	rectum
6	chr8:102643000-102647600	Weak transcription	Small Intestine	intestine
7	chr8:102643000-102650800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:102643600-102647400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:102643800-102646600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:102643800-102647200	Strong transcription	NHEK	skin
11	chr8:102643800-102650000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:102644200-102647400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:102644400-102648400	Weak transcription	Pancreas	Pancrea
14	chr8:102644600-102651200	Weak transcription	Gastric	stomach
15	chr8:102644600-102652200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:102644600-102663800	Weak transcription	Lung	lung
17	chr8:102644800-102647600	Weak transcription	A549	lung
18	chr8:102644800-102651400	Weak transcription	Fetal Kidney	kidney
19	chr8:102644800-102674600	Weak transcription	Ovary	ovary
20	chr8:102645000-102647800	Weak transcription	GM12878-XiMat	blood
21	chr8:102645000-102651600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:102645000-102656000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:102645200-102647400	Weak transcription	Stomach Mucosa	stomach
24	chr8:102645600-102653800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:102645600-102655600	Strong transcription	Placenta	Placenta
26	chr8:102645800-102648800	Enhancers	Colon Smooth Muscle	Colon
27	chr8:102646000-102646600	Enhancers	Stomach Smooth Muscle	stomach
28	chr8:102646000-102647200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:102646000-102647200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:102646000-102649400	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr8:102646000-102649600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr8:102646000-102652000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:102646200-102646600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr8:102646200-102647000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:102646200-102647000	Strong transcription	Esophagus	oesophagus
36	chr8:102646200-102647000	Enhancers	Fetal Muscle Trunk	muscle
37	chr8:102646200-102647000	Strong transcription	Fetal Stomach	stomach
38	chr8:102646200-102647200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:102646200-102647200	Strong transcription	Fetal Intestine Small	intestine
40	chr8:102646200-102647600	Strong transcription	Fetal Intestine Large	intestine
41	chr8:102646200-102650000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr8:102646200-102652400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr8:102646200-102653600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:102646400-102647600	Weak transcription	Aorta	Aorta

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