Variant report

Variant	rs6978555
Chromosome Location	chr7:101529704-101529705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101524538..101530208-chr7:101583819..101590225,13	MCF-7	breast:
2	chr7:101529626..101530204-chr7:101647546..101648051,2	MCF-7	breast:
3	chr7:101527665..101530418-chr7:101615760..101617815,3	MCF-7	breast:
4	chr7:101526287..101527935-chr7:101528596..101530450,2	K562	blood:
5	chr7:101528909..101531849-chr7:101750472..101753335,2	MCF-7	breast:
6	chr7:101527923..101529893-chr7:101545437..101547345,2	MCF-7	breast:
7	chr7:101526144..101529822-chr7:101529905..101534800,8	MCF-7	breast:
8	chr7:101528188..101530830-chr7:101535885..101537732,3	K562	blood:
9	chr7:101498602..101500393-chr7:101528605..101531066,2	K562	blood:
10	chr7:101527942..101530347-chr7:101531830..101534316,3	K562	blood:
11	chr7:101458547..101461666-chr7:101529380..101531848,3	MCF-7	breast:
12	chr7:101528248..101529991-chr7:101540450..101543058,2	K562	blood:
13	chr7:101527495..101530331-chr7:101553334..101556908,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10229003	0.81[ASN][1000 genomes]
rs10245008	0.81[ASN][1000 genomes]
rs10266326	0.81[ASN][1000 genomes]
rs11971810	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4236559	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6465836	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6957294	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6957361	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961254	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6979596	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7780749	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7803747	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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:81 , 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	chr7:101526000-101530200	Enhancers	Fetal Thymus	thymus
3	chr7:101526000-101540400	Weak transcription	Aorta	Aorta
4	chr7:101526200-101531400	Weak transcription	Esophagus	oesophagus
5	chr7:101526200-101536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:101526400-101529800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:101526400-101530000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:101526400-101533200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:101526400-101534600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:101526400-101542200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:101526600-101533200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:101526800-101530200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:101526800-101531400	Enhancers	Left Ventricle	heart
14	chr7:101526800-101534600	Weak transcription	HSMMtube	muscle
15	chr7:101526800-101543000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:101527000-101534400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:101527000-101538600	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:101527000-101543000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:101527000-101543000	Weak transcription	NHEK	skin
20	chr7:101527200-101530200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:101527200-101530400	Enhancers	Right Atrium	heart
22	chr7:101527200-101531000	Enhancers	Primary B cells from peripheral blood	blood
23	chr7:101527200-101542200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:101527600-101530400	Enhancers	Gastric	stomach
25	chr7:101527800-101530400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:101528000-101530600	Enhancers	Primary B cells from cord blood	blood
27	chr7:101528000-101531400	Enhancers	Placenta	Placenta
28	chr7:101528000-101531800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:101528000-101536400	Weak transcription	K562	blood
30	chr7:101528200-101530400	Enhancers	Brain Hippocampus Middle	brain
31	chr7:101528200-101530400	Enhancers	Lung	lung
32	chr7:101528200-101530400	Enhancers	Right Ventricle	heart
33	chr7:101528200-101530400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:101528200-101533200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:101528200-101533400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:101528200-101535200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:101528200-101535200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:101528200-101535400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:101528200-101539600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:101528400-101530200	Enhancers	Ovary	ovary
41	chr7:101528400-101530200	Enhancers	Pancreas	Pancrea
42	chr7:101528400-101533200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:101528400-101533600	Strong transcription	Fetal Intestine Small	intestine
44	chr7:101528400-101534000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:101528600-101530000	Enhancers	Psoas Muscle	Psoas
46	chr7:101528600-101530400	Enhancers	Spleen	Spleen
47	chr7:101528600-101530600	Enhancers	GM12878-XiMat	blood
48	chr7:101528600-101532800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:101528600-101535200	Weak transcription	Fetal Intestine Large	intestine
50	chr7:101528600-101555200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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