Variant report

Variant	rs397790886
Chromosome Location	chr7:129064083-129064084
allele	-/T
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	POLR2A	chr7:129064065-129064214	K562	blood:	n/a	n/a
2	CUX1	chr7:129063137-129064454	K562	blood:	n/a	n/a
3	NFIC	chr7:129063458-129064122	SK-N-SH	brain:	n/a	chr7:129063733-129063750
4	SIN3AK20	chr7:129063334-129064097	MCF-7	breast:	n/a	n/a
5	GATA3	chr7:129063221-129064189	MCF-7	breast:	n/a	n/a
6	GATA3	chr7:129063349-129064096	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:129061706..129064421-chr7:129072868..129075073,2	MCF-7	breast:
2	chr7:129062616..129064284-chr7:129199417..129201280,2	MCF-7	breast:
3	chr7:129063475..129066777-chr7:129072113..129074429,3	MCF-7	breast:

Variant related genes	Relation type
AHCYL2	TF binding region
ENSG00000128578	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv3391047	chr7:129064062-129066576	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1734667	chr7:129064082-129064083	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129008400-129073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:129016000-129071400	Weak transcription	Small Intestine	intestine
3	chr7:129017400-129069200	Weak transcription	Stomach Mucosa	stomach
4	chr7:129017400-129073000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:129017800-129064600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:129018400-129070000	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:129019400-129070800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:129019800-129066200	Weak transcription	Thymus	Thymus
9	chr7:129020000-129064600	Weak transcription	Spleen	Spleen
10	chr7:129027800-129070200	Weak transcription	HepG2	liver
11	chr7:129028400-129073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:129029000-129070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:129029200-129073200	Weak transcription	Brain Angular Gyrus	brain
14	chr7:129029600-129067400	Weak transcription	Fetal Brain Male	brain
15	chr7:129033800-129073600	Weak transcription	Right Ventricle	heart
16	chr7:129034200-129066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:129035600-129072600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:129035600-129073600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:129041400-129066200	Weak transcription	Esophagus	oesophagus
20	chr7:129041400-129067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:129041600-129064600	Weak transcription	Lung	lung
22	chr7:129041600-129073400	Weak transcription	HMEC	breast
23	chr7:129041800-129066000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:129042000-129066000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:129042600-129066200	Weak transcription	Gastric	stomach
26	chr7:129043400-129066400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:129043400-129072600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:129046600-129066200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:129046600-129066200	Weak transcription	Aorta	Aorta
30	chr7:129046600-129073400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:129047200-129064600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:129048600-129073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:129049600-129064200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:129049600-129073400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:129052400-129064800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:129052600-129068800	Weak transcription	Fetal Kidney	kidney
37	chr7:129052600-129073200	Weak transcription	GM12878-XiMat	blood
38	chr7:129052800-129064400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:129053800-129064200	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:129054000-129064200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:129054000-129064400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:129054000-129064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:129054000-129064600	Weak transcription	HSMMtube	muscle
44	chr7:129054000-129069000	Weak transcription	Fetal Lung	lung
45	chr7:129054200-129066000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:129055000-129064200	Weak transcription	Fetal Thymus	thymus
47	chr7:129055000-129066200	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:129055200-129064200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:129055200-129064200	Weak transcription	Fetal Brain Female	brain
50	chr7:129057200-129066800	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links