Variant report

Variant	rs7780749
Chromosome Location	chr7:101531395-101531396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101530702..101533237-chr7:101584032..101585932,2	MCF-7	breast:
2	chr7:101526289..101528067-chr7:101530737..101533297,2	K562	blood:
3	chr7:101526222..101527789-chr7:101530737..101532472,2	K562	blood:
4	chr7:101528909..101531849-chr7:101750472..101753335,2	MCF-7	breast:
5	chr7:101458547..101461666-chr7:101529380..101531848,3	MCF-7	breast:
6	chr7:101526144..101529822-chr7:101529905..101534800,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11971810	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4236559	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6465836	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6957294	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957361	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6961254	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6978555	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6979596	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803747	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101523200-101543200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:101526000-101540400	Weak transcription	Aorta	Aorta
3	chr7:101526200-101531400	Weak transcription	Esophagus	oesophagus
4	chr7:101526200-101536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:101526400-101533200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:101526400-101534600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:101526400-101542200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:101526600-101533200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:101526800-101531400	Enhancers	Left Ventricle	heart
10	chr7:101526800-101534600	Weak transcription	HSMMtube	muscle
11	chr7:101526800-101543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:101527000-101534400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:101527000-101538600	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:101527000-101543000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:101527000-101543000	Weak transcription	NHEK	skin
16	chr7:101527200-101542200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:101528000-101531400	Enhancers	Placenta	Placenta
18	chr7:101528000-101531800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:101528000-101536400	Weak transcription	K562	blood
20	chr7:101528200-101533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:101528200-101533400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:101528200-101535200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:101528200-101535200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:101528200-101535400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:101528200-101539600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:101528400-101533200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:101528400-101533600	Strong transcription	Fetal Intestine Small	intestine
28	chr7:101528400-101534000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:101528600-101532800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:101528600-101535200	Weak transcription	Fetal Intestine Large	intestine
31	chr7:101528600-101555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:101528800-101538600	Weak transcription	Dnd41	blood
33	chr7:101528800-101544000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr7:101529000-101533200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:101529000-101534600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:101529200-101531400	Strong transcription	Fetal Stomach	stomach
37	chr7:101529200-101533400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:101529200-101535400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:101529400-101534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:101529400-101534000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:101529400-101534600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:101529400-101534600	Weak transcription	Brain Germinal Matrix	brain
43	chr7:101529400-101539000	Weak transcription	Thymus	Thymus
44	chr7:101529400-101539400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:101529400-101539600	Weak transcription	Fetal Heart	heart
46	chr7:101529400-101543000	Weak transcription	Brain Substantia Nigra	brain
47	chr7:101529400-101554200	Weak transcription	Primary T cells from cord blood	blood
48	chr7:101529600-101532200	Weak transcription	Stomach Mucosa	stomach
49	chr7:101529600-101534000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:101529600-101534800	Weak transcription	Liver	Liver

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