Variant report

Variant	rs60330379
Chromosome Location	chr7:66179060-66179061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66177357..66179283-chr7:66202850..66205656,2	K562	blood:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction
ENSG00000272831	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6968492	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3401338	chr7:66147493-66206298	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66148400-66182400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr7:66148400-66184400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:66148400-66184800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:66149000-66199600	Weak transcription	Thymus	Thymus
5	chr7:66149600-66190200	Weak transcription	Hela-S3	cervix
6	chr7:66153400-66182200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:66159000-66180000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:66159400-66180000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:66159600-66190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:66159800-66180800	Weak transcription	Brain Germinal Matrix	brain
11	chr7:66162400-66189400	Weak transcription	Psoas Muscle	Psoas
12	chr7:66162600-66180600	Weak transcription	HMEC	breast
13	chr7:66162600-66192400	Weak transcription	NH-A	brain
14	chr7:66162600-66196800	Weak transcription	Right Ventricle	heart
15	chr7:66163000-66190800	Weak transcription	Esophagus	oesophagus
16	chr7:66164000-66180800	Weak transcription	HepG2	liver
17	chr7:66165200-66189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:66165400-66182400	Weak transcription	Left Ventricle	heart
19	chr7:66165400-66188600	Weak transcription	Lung	lung
20	chr7:66165400-66204600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:66165800-66197000	Weak transcription	Right Atrium	heart
22	chr7:66169000-66187400	Weak transcription	Small Intestine	intestine
23	chr7:66172600-66180800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:66172600-66182800	Strong transcription	Fetal Lung	lung
25	chr7:66173000-66180000	Weak transcription	Brain Angular Gyrus	brain
26	chr7:66173000-66182400	Weak transcription	Gastric	stomach
27	chr7:66173000-66190400	Weak transcription	Fetal Heart	heart
28	chr7:66173200-66190600	Weak transcription	Brain Substantia Nigra	brain
29	chr7:66174200-66184600	Strong transcription	Osteobl	bone
30	chr7:66174200-66190400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:66175000-66183800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:66175000-66190800	Weak transcription	Pancreas	Pancrea
33	chr7:66175000-66190800	Weak transcription	Spleen	Spleen
34	chr7:66175400-66179400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:66176400-66204600	Weak transcription	Colonic Mucosa	Colon
36	chr7:66176800-66179200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:66177200-66179600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:66177200-66191200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:66177400-66179400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:66177400-66181200	Strong transcription	Liver	Liver
41	chr7:66177600-66179200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr7:66177600-66179200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:66177600-66179400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:66177600-66181200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr7:66177600-66193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:66177800-66179200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:66177800-66179400	Strong transcription	HSMMtube	muscle
48	chr7:66177800-66180400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:66177800-66182000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:66178000-66181400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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