Variant report

Variant	rs3735712
Chromosome Location	chr8:102648917-102648918
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:102647773-102648972	SK-N-SH	brain:	n/a	chr8:102648108-102648124 chr8:102648108-102648125
2	EP300	chr8:102648631-102649080	SK-N-SH_RA	brain:	n/a	n/a
3	SPI1	chr8:102648879-102649690	GM12878	blood:	n/a	chr8:102649244-102649253
4	GATA3	chr8:102647867-102648985	SK-N-SH	brain:	n/a	chr8:102648050-102648059 chr8:102648693-102648700 chr8:102648314-102648324 chr8:102648724-102648734 chr8:102648911-102648924 chr8:102648053-102648062
5	GATA3	chr8:102647779-102649030	MCF-7	breast:	n/a	chr8:102648050-102648059 chr8:102648693-102648700 chr8:102648314-102648324 chr8:102648724-102648734 chr8:102648911-102648924 chr8:102648053-102648062
6	SIN3AK20	chr8:102647419-102648961	MCF-7	breast:	n/a	n/a
7	GATA3	chr8:102647674-102648973	MCF-7	breast:	n/a	chr8:102648050-102648059 chr8:102648693-102648700 chr8:102648314-102648324 chr8:102648724-102648734 chr8:102648911-102648924 chr8:102648053-102648062

No.	Distal block	Cell Line	Cell type
1	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
2	chr8:102569718..102571436-chr8:102646624..102648953,2	MCF-7	breast:
3	chr8:102643444..102646539-chr8:102648297..102653448,5	MCF-7	breast:
4	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13275653	0.86[EUR][1000 genomes]
rs2226399	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2387625	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	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:46 , 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	chr8:102643000-102650800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:102643800-102650000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:102644600-102651200	Weak transcription	Gastric	stomach
5	chr8:102644600-102652200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:102644600-102663800	Weak transcription	Lung	lung
7	chr8:102644800-102651400	Weak transcription	Fetal Kidney	kidney
8	chr8:102644800-102674600	Weak transcription	Ovary	ovary
9	chr8:102645000-102651600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:102645000-102656000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:102645600-102653800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:102645600-102655600	Strong transcription	Placenta	Placenta
13	chr8:102646000-102649400	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr8:102646000-102649600	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr8:102646000-102652000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:102646200-102650000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr8:102646200-102652400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr8:102646200-102653600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:102646600-102651000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:102647000-102651000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:102647000-102651200	Weak transcription	Esophagus	oesophagus
22	chr8:102647000-102652200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:102647200-102649000	Enhancers	HMEC	breast
24	chr8:102647200-102649600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:102647200-102650600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:102647200-102655800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:102647600-102649400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:102647800-102651000	Weak transcription	Aorta	Aorta
29	chr8:102648000-102649400	Enhancers	Fetal Stomach	stomach
30	chr8:102648200-102655800	Weak transcription	Colonic Mucosa	Colon
31	chr8:102648400-102649000	Strong transcription	Fetal Intestine Small	intestine
32	chr8:102648400-102649400	Enhancers	Left Ventricle	heart
33	chr8:102648400-102649600	Enhancers	GM12878-XiMat	blood
34	chr8:102648600-102649200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:102648600-102651800	Weak transcription	Small Intestine	intestine
36	chr8:102648600-102663600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:102648800-102649400	Weak transcription	Pancreas	Pancrea
38	chr8:102648800-102649600	Strong transcription	Fetal Intestine Large	intestine
39	chr8:102648800-102650400	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:102648800-102650800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:102648800-102650800	Weak transcription	Fetal Lung	lung
42	chr8:102648800-102650800	Weak transcription	Stomach Mucosa	stomach
43	chr8:102648800-102652000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:102648800-102653200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:102648800-102653600	Strong transcription	NHEK	skin
46	chr8:102648800-102654200	Weak transcription	A549	lung

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