Variant report

Variant	rs72951131
Chromosome Location	chr2:98332858-98332859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98269672..98271940-chr2:98331175..98333496,2	K562	blood:
2	chr2:98330772..98333242-chr2:98334688..98336662,2	K562	blood:
3	chr2:98325414..98327155-chr2:98332598..98334979,2	K562	blood:
4	chr2:98331870..98333821-chr2:98339114..98340858,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11886025	0.80[AMR][1000 genomes]
rs11886239	0.80[AMR][1000 genomes]
rs11904110	0.80[AMR][1000 genomes]
rs17022045	0.80[AMR][1000 genomes]
rs17028771	0.94[ASN][1000 genomes]
rs17695937	0.89[ASN][1000 genomes]
rs2071038	0.94[ASN][1000 genomes]
rs2290123	0.94[ASN][1000 genomes]
rs2290126	1.00[ASN][1000 genomes]
rs2290127	0.94[ASN][1000 genomes]
rs34459720	0.94[ASN][1000 genomes]
rs35321033	0.94[ASN][1000 genomes]
rs35530168	0.94[ASN][1000 genomes]
rs55757705	0.94[ASN][1000 genomes]
rs55766309	0.94[ASN][1000 genomes]
rs55933640	0.94[ASN][1000 genomes]
rs55981050	0.85[AMR][1000 genomes]
rs56035334	0.94[ASN][1000 genomes]
rs56233535	0.94[ASN][1000 genomes]
rs56717024	0.94[ASN][1000 genomes]
rs58321192	1.00[ASN][1000 genomes]
rs58383658	0.91[ASN][1000 genomes]
rs59021370	1.00[ASN][1000 genomes]
rs59060391	1.00[ASN][1000 genomes]
rs59168350	0.94[ASN][1000 genomes]
rs62157581	0.94[ASN][1000 genomes]
rs6542982	0.94[ASN][1000 genomes]
rs6543021	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6745653	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6753752	0.94[ASN][1000 genomes]
rs73959769	0.85[AMR][1000 genomes]
rs73959786	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7425883	0.94[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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98326200-98333000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:98329000-98336000	Enhancers	Fetal Muscle Leg	muscle
3	chr2:98330000-98337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:98330200-98334800	Weak transcription	GM12878-XiMat	blood
5	chr2:98330200-98335800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:98330400-98333600	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr2:98330800-98333000	Weak transcription	Spleen	Spleen
8	chr2:98330800-98334400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:98330800-98336000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
10	chr2:98331000-98333000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr2:98331000-98334200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:98331200-98333800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:98331200-98334800	Weak transcription	Primary B cells from cord blood	blood
14	chr2:98331200-98335000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
15	chr2:98331200-98335800	Transcr. at gene 5' and 3'	Thymus	Thymus
16	chr2:98331200-98337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:98331400-98333600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:98331400-98333600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr2:98331400-98334600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:98331400-98336000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:98331400-98336200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:98331600-98333400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:98331600-98334600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
24	chr2:98331600-98336000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:98331800-98333400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:98331800-98333600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr2:98331800-98335800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:98332000-98333400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
29	chr2:98332000-98336000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:98332000-98340000	Weak transcription	Esophagus	oesophagus
31	chr2:98332200-98333400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:98332400-98333200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr2:98332400-98333800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:98332400-98335800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:98332600-98333600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:98332600-98333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:98332600-98335400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:98332600-98337200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:98332800-98333200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
40	chr2:98332800-98334400	Weak transcription	Colonic Mucosa	Colon
41	chr2:98332800-98335000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:98332800-98336000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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