Variant report

Variant	rs861848
Chromosome Location	chr22:21999042-21999043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:21955048..21956824-chr22:21997318..21999777,2	MCF-7	breast:
2	chr22:21979187..21986650-chr22:21993296..22001177,21	MCF-7	breast:
3	chr22:21996385..21999252-chr22:22290359..22292966,2	K562	blood:

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000161179	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs861787	1.00[ASN][1000 genomes]
rs861849	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861850	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861851	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861853	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861854	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861855	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs861858	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
13	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
14	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
15	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21997200-22005600	Weak transcription	Small Intestine	intestine
2	chr22:21997400-22005000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:21997400-22005200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:21997600-22005400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:21997600-22005600	Weak transcription	Aorta	Aorta
6	chr22:21997800-22000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:21997800-22001000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr22:21997800-22001000	Weak transcription	Brain Germinal Matrix	brain
9	chr22:21997800-22001000	Weak transcription	Colon Smooth Muscle	Colon
10	chr22:21997800-22001200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:21997800-22001200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:21997800-22003000	Weak transcription	Brain Substantia Nigra	brain
13	chr22:21997800-22003800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:21997800-22004800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr22:21997800-22005200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:21997800-22005200	Weak transcription	Fetal Lung	lung
17	chr22:21997800-22005200	Weak transcription	Psoas Muscle	Psoas
18	chr22:21998000-21999600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr22:21998000-21999800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr22:21998000-22000000	Weak transcription	Fetal Intestine Large	intestine
21	chr22:21998000-22000600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr22:21998000-22000600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr22:21998000-22000600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:21998000-22000600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr22:21998000-22000600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:21998000-22000600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr22:21998000-22000600	Strong transcription	Fetal Thymus	thymus
28	chr22:21998000-22000800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:21998000-22000800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:21998000-22000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:21998000-22000800	Weak transcription	Brain Hippocampus Middle	brain
32	chr22:21998000-22000800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:21998000-22001000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:21998000-22001000	Weak transcription	Primary B cells from cord blood	blood
35	chr22:21998000-22001000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:21998000-22001000	Weak transcription	Brain Angular Gyrus	brain
37	chr22:21998000-22001000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr22:21998000-22001200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:21998000-22003000	Weak transcription	Primary T cells from cord blood	blood
40	chr22:21998000-22003200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr22:21998000-22003400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:21998000-22004800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:21998000-22005000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr22:21998000-22005000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr22:21998000-22005000	Weak transcription	Fetal Heart	heart
46	chr22:21998000-22005000	Strong transcription	Fetal Intestine Small	intestine
47	chr22:21998000-22005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:21998000-22005200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr22:21998000-22005200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:21998000-22005200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links