Variant report

Variant	rs4970972
Chromosome Location	chr1:150468547-150468548
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150336617..150339130-chr1:150468184..150470243,2	K562	blood:
2	chr1:150461642..150464701-chr1:150468175..150471507,3	MCF-7	breast:
3	chr1:150206275..150208952-chr1:150468371..150470113,2	K562	blood:
4	chr1:150467926..150469433-chr1:150484005..150485937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143401	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61817510	0.84[AMR][1000 genomes]
rs72702577	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150460600-150469000	Weak transcription	Pancreas	Pancrea
2	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
3	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
4	chr1:150460800-150468600	Weak transcription	NHDF-Ad	bronchial
5	chr1:150460800-150470000	Weak transcription	HMEC	breast
6	chr1:150460800-150470600	Weak transcription	Fetal Brain Male	brain
7	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
11	chr1:150461200-150473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:150461400-150470800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:150461400-150475800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
20	chr1:150461600-150473000	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:150461600-150473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:150461800-150473800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:150462000-150468600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:150462000-150480000	Strong transcription	Fetal Stomach	stomach
25	chr1:150462000-150480600	Strong transcription	Fetal Intestine Small	intestine
26	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:150462400-150473800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:150463200-150479800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:150463400-150477600	Weak transcription	Fetal Kidney	kidney
30	chr1:150463600-150471400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:150464000-150475600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:150464000-150477000	Weak transcription	HUVEC	blood vessel
33	chr1:150464200-150468600	Weak transcription	K562	blood
34	chr1:150464200-150468800	Weak transcription	Colonic Mucosa	Colon
35	chr1:150464200-150470000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:150464200-150476800	Weak transcription	Psoas Muscle	Psoas
37	chr1:150464400-150468600	Weak transcription	HSMM	muscle
38	chr1:150464400-150471400	Weak transcription	Hela-S3	cervix
39	chr1:150464400-150475400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:150464800-150480200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:150465400-150468600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:150465600-150468600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:150465600-150470000	Weak transcription	Right Ventricle	heart
44	chr1:150465800-150468600	Weak transcription	Ovary	ovary
45	chr1:150465800-150469000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:150466000-150468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:150466000-150468800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:150466000-150469000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:150466000-150469000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:150466000-150469000	Weak transcription	Aorta	Aorta

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