Variant report

Variant	rs11692671
Chromosome Location	chr2:98336200-98336201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98278882..98281534-chr2:98334105..98336255,2	K562	blood:
2	chr2:98330772..98333242-chr2:98334688..98336662,2	K562	blood:
3	chr2:98329030..98330806-chr2:98335758..98337511,2	K562	blood:

Variant related genes	Relation type
ENSG00000201806	Chromatin interaction
ENSG00000115073	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000115085	Chromatin interaction

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

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

rs_ID	r²[population]
rs11680321	0.87[EUR][1000 genomes]
rs11684749	0.83[EUR][1000 genomes]
rs11686881	0.84[AMR][1000 genomes]
rs11691494	0.83[EUR][1000 genomes]
rs11692010	0.85[EUR][1000 genomes]
rs12988571	0.82[EUR][1000 genomes]
rs12995673	0.83[EUR][1000 genomes]
rs13006932	0.85[EUR][1000 genomes]
rs13020776	0.83[EUR][1000 genomes]
rs13032265	0.83[EUR][1000 genomes]
rs13033383	0.82[EUR][1000 genomes]
rs13034929	0.82[EUR][1000 genomes]
rs1470483	0.84[EUR][1000 genomes]
rs17488834	0.84[AMR][1000 genomes]
rs17488897	0.88[EUR][1000 genomes]
rs17489454	0.83[EUR][1000 genomes]
rs17489915	0.83[EUR][1000 genomes]
rs17489984	0.82[EUR][1000 genomes]
rs2044458	0.87[EUR][1000 genomes]
rs2278700	0.82[EUR][1000 genomes]
rs2305143	0.83[EUR][1000 genomes]
rs2871183	0.83[EUR][1000 genomes]
rs34149969	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34502870	0.83[EUR][1000 genomes]
rs34654057	0.86[EUR][1000 genomes]
rs35424768	0.85[EUR][1000 genomes]
rs4311104	0.83[EUR][1000 genomes]
rs55776387	0.82[EUR][1000 genomes]
rs6711101	0.87[EUR][1000 genomes]
rs6738389	0.86[EUR][1000 genomes]
rs71412824	0.82[EUR][1000 genomes]
rs717417	0.82[EUR][1000 genomes]
rs895438	0.84[EUR][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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98330000-98337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:98331200-98337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:98331400-98336200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:98332000-98340000	Weak transcription	Esophagus	oesophagus
5	chr2:98332600-98337200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:98333400-98336600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:98333400-98336600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:98333600-98341800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:98334200-98336200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr2:98334200-98336600	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:98334600-98336200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
13	chr2:98335200-98336400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr2:98335600-98336200	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:98335600-98336200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:98335600-98338800	Weak transcription	Right Ventricle	heart
17	chr2:98335800-98336200	Flanking Active TSS	Thymus	Thymus
18	chr2:98335800-98336400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:98335800-98336400	Enhancers	Primary B cells from cord blood	blood
20	chr2:98335800-98336400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:98335800-98336400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:98335800-98336600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:98335800-98337800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:98335800-98337800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:98335800-98337800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:98336000-98336200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
27	chr2:98336000-98336200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:98336000-98336400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:98336000-98336400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:98336000-98337000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:98336000-98337400	Genic enhancers	Fetal Thymus	thymus
32	chr2:98336000-98337600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:98336000-98337800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:98336000-98337800	Genic enhancers	Dnd41	blood
35	chr2:98336000-98338000	Genic enhancers	Primary T cells from cord blood	blood
36	chr2:98336000-98339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:98336000-98339600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:98336000-98339800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr2:98336000-98340400	Weak transcription	Spleen	Spleen
40	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:98336200-98336400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:98336200-98337200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:98336200-98337400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:98336200-98337600	Genic enhancers	Thymus	Thymus
46	chr2:98336200-98337800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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