Variant report

Variant	rs71978935
Chromosome Location	chr7:6745348-6745349
allele	-/A/AAA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6745224..6747442-chr7:6767898..6770902,3	MCF-7	breast:
2	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
3	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
4	chr7:6700299..6703221-chr7:6744305..6746051,2	MCF-7	breast:
5	chr17:59484738..59486572-chr7:6745021..6746847,2	MCF-7	breast:
6	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
7	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:

Variant related genes	Relation type
ENSG00000232581	Chromatin interaction
ENSG00000187953	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000146576	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	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:6731200-6745400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:6739400-6745600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:6739600-6745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:6742000-6745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:6743800-6745600	Weak transcription	Aorta	Aorta
8	chr7:6744000-6745400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:6744000-6745400	Weak transcription	HSMMtube	muscle
10	chr7:6744400-6745400	Enhancers	Adipose Nuclei	Adipose
11	chr7:6744400-6746000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr7:6744400-6746200	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr7:6744600-6745400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:6744600-6745600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:6744600-6745600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr7:6744600-6745800	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr7:6744600-6747200	Active TSS	Right Ventricle	heart
18	chr7:6744800-6745400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:6744800-6745400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:6744800-6745400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr7:6744800-6745400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr7:6744800-6745400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:6744800-6745400	Enhancers	Lung	lung
24	chr7:6744800-6745400	Enhancers	HUVEC	blood vessel
25	chr7:6744800-6745600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:6744800-6745600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:6744800-6745600	Enhancers	Esophagus	oesophagus
28	chr7:6744800-6745600	Flanking Active TSS	Fetal Heart	heart
29	chr7:6744800-6745600	Enhancers	Gastric	stomach
30	chr7:6744800-6745600	Enhancers	Pancreas	Pancrea
31	chr7:6744800-6745600	Enhancers	Small Intestine	intestine
32	chr7:6744800-6745600	Enhancers	Spleen	Spleen
33	chr7:6744800-6745800	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr7:6744800-6745800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr7:6744800-6745800	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr7:6744800-6745800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr7:6744800-6746000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:6744800-6746800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:6744800-6747200	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:6745000-6745400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:6745000-6745400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:6745000-6745400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:6745000-6745400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr7:6745000-6745400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr7:6745000-6745400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr7:6745000-6745400	Enhancers	Colon Smooth Muscle	Colon
47	chr7:6745000-6745400	Enhancers	Fetal Brain Male	brain
48	chr7:6745000-6745400	Weak transcription	Fetal Lung	lung
49	chr7:6745000-6745400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr7:6745000-6745400	Active TSS	Rectal Mucosa Donor 31	rectum

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