Variant report

Variant	rs2289919
Chromosome Location	chr2:98341195-98341196
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	chr2:98340167..98342272-chr2:98350738..98353485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10460479	0.86[ASN][1000 genomes]
rs10460480	0.91[ASN][1000 genomes]
rs11687510	0.82[ASN][1000 genomes]
rs12053205	0.85[ASN][1000 genomes]
rs1562293	0.88[ASN][1000 genomes]
rs17033906	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278699	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289918	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35321446	0.93[ASN][1000 genomes]
rs55957600	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56293187	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56948188	0.93[ASN][1000 genomes]
rs57831860	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58019724	0.87[ASN][1000 genomes]
rs58511420	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59562515	0.87[ASN][1000 genomes]
rs61228852	0.85[ASN][1000 genomes]
rs62157588	0.92[ASN][1000 genomes]
rs6711959	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72951160	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73963107	0.86[EUR][1000 genomes]
rs73963109	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746003	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746004	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7565744	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	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
3	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3370785	chr2:98339370-98341868	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv10104	chr2:98340272-98345152	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr2:98333600-98341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
3	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
12	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:98337400-98343800	Strong transcription	Fetal Thymus	thymus
16	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:98337800-98343200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:98337800-98357400	Strong transcription	Dnd41	blood
19	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
20	chr2:98339200-98341400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:98339200-98345800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:98339400-98342800	Weak transcription	HSMMtube	muscle
23	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:98339800-98341800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:98339800-98341800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:98339800-98342000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr2:98339800-98342200	Strong transcription	Primary T cells from cord blood	blood
28	chr2:98340000-98341600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:98340400-98341200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr2:98340600-98346600	Weak transcription	Esophagus	oesophagus
31	chr2:98341000-98341200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:98341000-98342000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:98341000-98342400	Strong transcription	Spleen	Spleen
34	chr2:98341000-98343000	Weak transcription	Lung	lung
35	chr2:98341000-98354800	Weak transcription	Gastric	stomach

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