Variant report

Variant	rs72951140
Chromosome Location	chr2:98337544-98337545
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98337153..98339163-chr2:98339968..98342288,2	K562	blood:
2	chr2:98336485..98339120-chr2:98342439..98345883,3	K562	blood:

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:27)

rs_ID	r²[population]
rs10460480	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022096	1.00[AMR][1000 genomes]
rs17022495	1.00[AMR][1000 genomes]
rs17028435	1.00[AMR][1000 genomes]
rs17028568	1.00[AMR][1000 genomes]
rs17028640	1.00[AMR][1000 genomes]
rs17031009	1.00[AMR][1000 genomes]
rs2167008	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55637939	1.00[AMR][1000 genomes]
rs56045386	1.00[AMR][1000 genomes]
rs56081234	0.89[AFR][1000 genomes]
rs56381875	1.00[AMR][1000 genomes]
rs56717024	1.00[AMR][1000 genomes]
rs56894046	1.00[AMR][1000 genomes]
rs57002448	1.00[AMR][1000 genomes]
rs57183691	1.00[AMR][1000 genomes]
rs57875000	1.00[AMR][1000 genomes]
rs58059561	1.00[AMR][1000 genomes]
rs58753916	1.00[AMR][1000 genomes]
rs59134572	1.00[AMR][1000 genomes]
rs59340312	1.00[AMR][1000 genomes]
rs60599690	1.00[AMR][1000 genomes]
rs60713338	1.00[AMR][1000 genomes]
rs61016336	1.00[AMR][1000 genomes]
rs73959761	1.00[AMR][1000 genomes]
rs73959772	1.00[AMR][1000 genomes]
rs9678135	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98332000-98340000	Weak transcription	Esophagus	oesophagus
2	chr2:98333600-98341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
4	chr2:98335600-98338800	Weak transcription	Right Ventricle	heart
5	chr2:98335800-98337800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:98335800-98337800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:98335800-98337800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:98336000-98337600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:98336000-98337800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:98336000-98337800	Genic enhancers	Dnd41	blood
11	chr2:98336000-98338000	Genic enhancers	Primary T cells from cord blood	blood
12	chr2:98336000-98339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:98336000-98339600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:98336000-98339800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:98336000-98340400	Weak transcription	Spleen	Spleen
16	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:98336200-98337600	Genic enhancers	Thymus	Thymus
19	chr2:98336200-98337800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:98336400-98337800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:98336400-98337800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:98336400-98337800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:98336400-98337800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:98336400-98340200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
32	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:98337000-98338000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr2:98337000-98338000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:98337000-98338000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:98337200-98337600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:98337200-98338000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:98337400-98337800	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:98337400-98338600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:98337400-98343800	Strong transcription	Fetal Thymus	thymus
43	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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