Variant report

Variant	rs56081234
Chromosome Location	chr2:98350101-98350102
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98346943..98349545-chr2:98349557..98351669,3	K562	blood:

Variant related genes	Relation type
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28624680	1.00[AMR][1000 genomes]
rs28688392	1.00[AMR][1000 genomes]
rs55674214	1.00[AMR][1000 genomes]
rs55703134	1.00[AMR][1000 genomes]
rs56056137	1.00[AMR][1000 genomes]
rs56210806	1.00[AMR][1000 genomes]
rs56238985	1.00[AMR][1000 genomes]
rs56305927	1.00[AMR][1000 genomes]
rs57004424	1.00[AMR][1000 genomes]
rs57708882	1.00[AMR][1000 genomes]
rs57836517	1.00[AMR][1000 genomes]
rs57970329	1.00[AMR][1000 genomes]
rs58161649	1.00[AMR][1000 genomes]
rs59602407	1.00[AMR][1000 genomes]
rs60066040	1.00[AMR][1000 genomes]
rs6720044	1.00[AMR][1000 genomes]
rs72951140	0.89[AFR][1000 genomes]
rs73959728	1.00[AMR][1000 genomes]
rs73959737	1.00[AMR][1000 genomes]
rs73959805	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73961167	1.00[AMR][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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:98337800-98357400	Strong transcription	Dnd41	blood
5	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
6	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:98341000-98354800	Weak transcription	Gastric	stomach
8	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
9	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:98344800-98356400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:98344800-98356800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:98346000-98357000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:98346800-98350800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:98346800-98351200	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:98347200-98350200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:98347200-98357400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:98347200-98358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:98347800-98351600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:98347800-98356200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:98348000-98350200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:98348200-98350200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
25	chr2:98348600-98352800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:98348800-98355200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:98348800-98364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:98349000-98350200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:98349000-98352200	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:98349000-98356800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:98349200-98356200	Strong transcription	Fetal Thymus	thymus
32	chr2:98349600-98353200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:98350000-98350400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:98350000-98351000	Genic enhancers	Spleen	Spleen
35	chr2:98350000-98360400	Weak transcription	Fetal Intestine Small	intestine

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