Variant report

Variant	rs72633870
Chromosome Location	chr1:9783805-9783806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9783009..9785191-chr1:9899750..9901610,2	K562	blood:
2	chr1:9782219..9784206-chr1:9788877..9790888,2	MCF-7	breast:
3	chr1:9776188..9781647-chr1:9782146..9786494,11	K562	blood:
4	chr1:9778823..9786788-chr1:9787182..9791476,8	K562	blood:
5	chr1:9781386..9784652-chr1:9924402..9927637,3	K562	blood:

Variant related genes	Relation type
ENSG00000171608	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2230735	0.83[ASN][1000 genomes]
rs28730671	1.00[ASN][1000 genomes]
rs28730674	1.00[ASN][1000 genomes]
rs28730676	0.96[ASN][1000 genomes]
rs28730677	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4486456	0.92[ASN][1000 genomes]
rs72871215	1.00[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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
2	chr1:9768600-9787400	Weak transcription	Left Ventricle	heart
3	chr1:9772600-9788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:9777800-9790200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:9777800-9790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:9778400-9793400	Weak transcription	Fetal Kidney	kidney
7	chr1:9778600-9785200	Genic enhancers	Primary T cells from cord blood	blood
8	chr1:9778600-9788400	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr1:9778600-9790600	Weak transcription	Small Intestine	intestine
10	chr1:9778800-9785400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:9779000-9785400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:9779000-9788600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:9779200-9786600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:9779200-9786800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:9779400-9785200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:9779800-9785200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr1:9780000-9784800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr1:9780000-9790800	Weak transcription	Hela-S3	cervix
19	chr1:9780200-9785200	Strong transcription	Ovary	ovary
20	chr1:9780400-9785000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
21	chr1:9780400-9785000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr1:9780600-9792600	Strong transcription	Dnd41	blood
23	chr1:9781000-9785200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:9781200-9790200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:9781200-9813200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:9781600-9784200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr1:9781600-9784400	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr1:9781600-9800600	Weak transcription	Fetal Brain Male	brain
29	chr1:9781800-9784200	ZNF genes & repeats	HSMM	muscle
30	chr1:9781800-9788200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:9781800-9793600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:9782000-9784200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr1:9782000-9784200	ZNF genes & repeats	Fetal Stomach	stomach
34	chr1:9782000-9784200	ZNF genes & repeats	Thymus	Thymus
35	chr1:9782000-9784400	Strong transcription	NHEK	skin
36	chr1:9782000-9784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:9782000-9784800	Weak transcription	K562	blood
38	chr1:9782000-9785400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr1:9782000-9785400	ZNF genes & repeats	Fetal Thymus	thymus
40	chr1:9782000-9785600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:9782000-9788400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:9782200-9784200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:9782200-9784200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr1:9782200-9784400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:9782200-9785200	ZNF genes & repeats	Placenta	Placenta
46	chr1:9782200-9792800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:9782400-9784000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:9782400-9784000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:9782400-9784200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:9782400-9784200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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