Variant report

Variant	rs836547
Chromosome Location	chr7:6438918-6438919
allele	G/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	ZNF263	chr7:6438495-6438930	HEK293-T-REx	kidney:	n/a	n/a
2	NFIC	chr7:6438532-6438986	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr7:6438587-6439007	ECC-1	luminal epithelium:	n/a	n/a
4	MYC	chr7:6438739-6438930	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr7:6438576-6438954	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6413015..6417903-chr7:6435938..6439469,5	MCF-7	breast:

Variant related genes	Relation type
RAC1	TF binding region
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1647224	0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs2303364	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs34218191	0.87[EUR][1000 genomes]
rs6971605	0.86[EUR][1000 genomes]
rs702482	0.82[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs836474	1.00[ASW][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs836479	0.86[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs836486	0.84[ASN][1000 genomes]
rs836488	0.82[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs836490	0.84[ASN][1000 genomes]
rs836560	0.87[CHB][hapmap];0.92[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats 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	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6426000-6456400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:6426400-6457400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6433200-6441200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:6433600-6441200	Weak transcription	Fetal Kidney	kidney
6	chr7:6433800-6440600	Weak transcription	HSMMtube	muscle
7	chr7:6434000-6439600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:6434000-6439600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:6434200-6441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:6434200-6441200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:6434400-6439200	Weak transcription	NHDF-Ad	bronchial
12	chr7:6434400-6439600	Weak transcription	Aorta	Aorta
13	chr7:6434400-6440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:6435600-6439600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:6435800-6439200	Enhancers	Brain Hippocampus Middle	brain
16	chr7:6436000-6440200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:6436000-6440800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:6436000-6444800	Weak transcription	Fetal Brain Male	brain
19	chr7:6436200-6439200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:6436200-6439600	Weak transcription	HUVEC	blood vessel
21	chr7:6436200-6440800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:6436200-6441000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:6436200-6441200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr7:6436200-6448200	Weak transcription	Small Intestine	intestine
25	chr7:6436400-6439600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:6437000-6439600	Enhancers	Psoas Muscle	Psoas
27	chr7:6437200-6439000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr7:6437200-6439600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:6437200-6439800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:6437200-6439800	Enhancers	Right Ventricle	heart
31	chr7:6437200-6449000	Strong transcription	Fetal Stomach	stomach
32	chr7:6437400-6439000	Enhancers	Brain Substantia Nigra	brain
33	chr7:6437400-6439200	Genic enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:6437400-6439800	Enhancers	Pancreas	Pancrea
35	chr7:6437400-6440200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:6437400-6440200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:6437400-6440200	Enhancers	Brain Angular Gyrus	brain
38	chr7:6437400-6457400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:6437400-6457400	Strong transcription	Dnd41	blood
40	chr7:6437600-6439000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:6437600-6439200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:6437600-6439400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:6437600-6439400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:6437600-6439400	Genic enhancers	Fetal Muscle Leg	muscle
45	chr7:6437600-6439400	Enhancers	Ovary	ovary
46	chr7:6437600-6439400	Strong transcription	GM12878-XiMat	blood
47	chr7:6437600-6439600	Enhancers	Placenta	Placenta
48	chr7:6437600-6439600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
49	chr7:6437600-6439800	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:6437600-6439800	Genic enhancers	Muscle Satellite Cultured Cells	--

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