Variant report

Variant	rs892752
Chromosome Location	chr7:99496667-99496668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99494836..99497202-chr7:99514920..99517849,4	K562	blood:
2	chr7:99496614..99498175-chr7:99517020..99518576,2	MCF-7	breast:
3	chr7:99494836..99497202-chr7:99514926..99517849,2	K562	blood:
4	chr7:99481318..99483626-chr7:99494027..99496823,2	K562	blood:
5	chr7:99493888..99497270-chr7:99498893..99502551,4	K562	blood:
6	chr7:99489288..99492873-chr7:99495925..99498517,3	K562	blood:

Variant related genes	Relation type
ENSG00000146833	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2897031	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33998596	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35432946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45589541	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv1792388	chr7:99468155-99497338	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99479800-99499200	Weak transcription	Small Intestine	intestine
2	chr7:99485200-99499000	Weak transcription	Psoas Muscle	Psoas
3	chr7:99485600-99498200	Weak transcription	NHDF-Ad	bronchial
4	chr7:99485800-99498200	Weak transcription	HSMMtube	muscle
5	chr7:99485800-99498800	Weak transcription	K562	blood
6	chr7:99486000-99497400	Weak transcription	Esophagus	oesophagus
7	chr7:99486400-99501000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:99486600-99498000	Weak transcription	NH-A	brain
9	chr7:99486800-99498800	Weak transcription	HUVEC	blood vessel
10	chr7:99486800-99499200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:99487600-99498200	Weak transcription	HSMM	muscle
12	chr7:99487800-99497000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:99487800-99497800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:99487800-99498200	Weak transcription	HepG2	liver
15	chr7:99488000-99497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:99488000-99497600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:99488000-99499200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:99488200-99497200	Weak transcription	Colonic Mucosa	Colon
19	chr7:99488400-99497200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:99488400-99497600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:99488400-99497600	Weak transcription	Fetal Brain Male	brain
22	chr7:99488400-99498200	Weak transcription	Fetal Heart	heart
23	chr7:99488400-99499000	Weak transcription	Fetal Kidney	kidney
24	chr7:99488600-99497800	Weak transcription	Osteobl	bone
25	chr7:99489000-99497600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:99489200-99497000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:99489400-99498400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:99489400-99498400	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:99490000-99497200	Weak transcription	Dnd41	blood
30	chr7:99490000-99498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:99490000-99498400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:99490200-99500200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:99490400-99496800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:99490400-99496800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:99490400-99497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:99490400-99497600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:99490600-99497400	Weak transcription	Ovary	ovary
38	chr7:99490600-99497800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:99490600-99499000	Weak transcription	NHEK	skin
40	chr7:99490600-99499200	Weak transcription	Gastric	stomach
41	chr7:99490600-99499400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:99492600-99516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:99493200-99499400	Weak transcription	Right Atrium	heart
44	chr7:99494600-99498600	Weak transcription	HMEC	breast
45	chr7:99494600-99508800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:99494800-99507200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr7:99495400-99496800	Strong transcription	Pancreas	Pancrea
48	chr7:99495400-99496800	Genic enhancers	GM12878-XiMat	blood
49	chr7:99495400-99498000	Strong transcription	Fetal Intestine Small	intestine
50	chr7:99495400-99498200	Strong transcription	Fetal Stomach	stomach

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