Variant report

Variant	rs536982273
Chromosome Location	chr7:6745093-6745094
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr7:6744838-6745105	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
2	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
3	chr7:6700299..6703221-chr7:6744305..6746051,2	MCF-7	breast:
4	chr17:59484738..59486572-chr7:6745021..6746847,2	MCF-7	breast:
5	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
6	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
7	chr7:6743479..6745149-chr7:6745557..6748493,2	MCF-7	breast:

No data

Variant related genes	Relation type
PMS2CL	TF binding region
ZNF12	TF binding region
ENSG00000205903	Chromatin interaction
ENSG00000187953	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000232581	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000164631	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv8038	chr7:6744717-6748111	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:6726000-6745200	ZNF genes & repeats	A549	lung
5	chr7:6731200-6745400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:6733200-6745200	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr7:6739400-6745600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:6739600-6745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:6740200-6745200	ZNF genes & repeats	K562	blood
10	chr7:6740600-6745200	ZNF genes & repeats	HSMM	muscle
11	chr7:6742000-6745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:6742800-6745200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:6743600-6745200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:6743800-6745600	Weak transcription	Aorta	Aorta
15	chr7:6744000-6745400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:6744000-6745400	Weak transcription	HSMMtube	muscle
17	chr7:6744400-6745200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:6744400-6745400	Enhancers	Adipose Nuclei	Adipose
19	chr7:6744400-6746000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr7:6744400-6746200	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr7:6744600-6745200	Genic enhancers	Primary B cells from cord blood	blood
22	chr7:6744600-6745200	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr7:6744600-6745200	Transcr. at gene 5' and 3'	Liver	Liver
24	chr7:6744600-6745200	Flanking Active TSS	HepG2	liver
25	chr7:6744600-6745400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:6744600-6745600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:6744600-6745600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr7:6744600-6745800	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr7:6744600-6747200	Active TSS	Right Ventricle	heart
30	chr7:6744800-6745200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:6744800-6745200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:6744800-6745200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
33	chr7:6744800-6745200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:6744800-6745200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:6744800-6745200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:6744800-6745200	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr7:6744800-6745200	Genic enhancers	Placenta	Placenta
38	chr7:6744800-6745200	Genic enhancers	Fetal Thymus	thymus
39	chr7:6744800-6745200	Enhancers	Left Ventricle	heart
40	chr7:6744800-6745200	Flanking Active TSS	Psoas Muscle	Psoas
41	chr7:6744800-6745200	Transcr. at gene 5' and 3'	NHEK	skin
42	chr7:6744800-6745400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:6744800-6745400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:6744800-6745400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr7:6744800-6745400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:6744800-6745400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:6744800-6745400	Enhancers	Lung	lung
48	chr7:6744800-6745400	Enhancers	HUVEC	blood vessel
49	chr7:6744800-6745600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr7:6744800-6745600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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