Variant report

Variant	rs10001165
Chromosome Location	chr4:7721361-7721362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7556325..7556952-chr4:7720957..7721491,2	MCF-7	breast:
2	chr4:7717399..7719546-chr4:7720941..7723402,3	K562	blood:
3	chr4:7193893..7194671-chr4:7721003..7721515,2	K562	blood:
4	chr4:7464162..7464863-chr4:7721037..7721847,3	MCF-7	breast:
5	chr4:7705546..7706171-chr4:7721058..7721957,2	MCF-7	breast:
6	chr4:7720870..7722721-chr4:7731493..7735156,3	MCF-7	breast:
7	chr4:7716222..7719124-chr4:7719418..7721619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184985	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001090	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2079168	0.81[EUR][1000 genomes]
rs2097769	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv878572	chr4:7693469-7730392	Enhancers Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv878573	chr4:7698316-7730392	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv878574	chr4:7715181-7751894	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv878575	chr4:7715181-7767755	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv878576	chr4:7720919-7746820	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7717000-7726200	Weak transcription	Brain Substantia Nigra	brain
2	chr4:7717600-7723000	Weak transcription	Right Atrium	heart
3	chr4:7717800-7739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:7718600-7729000	Weak transcription	Brain Angular Gyrus	brain
5	chr4:7720400-7721400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
6	chr4:7721000-7721400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:7721000-7721600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr4:7721000-7721600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr4:7721000-7721800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:7721000-7721800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:7721000-7721800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:7721000-7721800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:7721000-7721800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr4:7721000-7721800	Enhancers	Brain Anterior Caudate	brain
15	chr4:7721000-7721800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr4:7721200-7721400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:7721200-7721400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr4:7721200-7721400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr4:7721200-7721400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
20	chr4:7721200-7721400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:7721200-7721400	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:7721200-7721400	Bivalent Enhancer	Colonic Mucosa	Colon
23	chr4:7721200-7721400	Enhancers	Colon Smooth Muscle	Colon
24	chr4:7721200-7721400	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr4:7721200-7721400	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr4:7721200-7721400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr4:7721200-7721400	Bivalent Enhancer	Fetal Stomach	stomach
28	chr4:7721200-7721400	Enhancers	Left Ventricle	heart
29	chr4:7721200-7721400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
30	chr4:7721200-7721400	Flanking Active TSS	HepG2	liver
31	chr4:7721200-7721600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:7721200-7721600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:7721200-7721600	Enhancers	Brain Hippocampus Middle	brain
34	chr4:7721200-7721600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr4:7721200-7721600	Bivalent Enhancer	Placenta	Placenta
36	chr4:7721200-7721600	Enhancers	Ovary	ovary
37	chr4:7721200-7721600	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr4:7721200-7721800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:7721200-7721800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:7721200-7721800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:7721200-7721800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr4:7721200-7721800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:7721200-7721800	Enhancers	Brain Germinal Matrix	brain
44	chr4:7721200-7721800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr4:7721200-7721800	Enhancers	Fetal Brain Male	brain
46	chr4:7721200-7721800	Enhancers	HMEC	breast
47	chr4:7721200-7726200	Weak transcription	Gastric	stomach

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