Variant report

Variant	rs6543040
Chromosome Location	chr2:98343254-98343255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98336485..98339120-chr2:98342439..98345883,3	K562	blood:
2	chr2:98343226..98345412-chr2:98346689..98348407,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11687510	0.88[CHB][hapmap]
rs11691641	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs13002912	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs17033906	0.89[CHB][hapmap]
rs2084177	0.80[AFR][1000 genomes]
rs2121272	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2278699	0.89[CHB][hapmap]
rs34747246	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35321446	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62157588	0.86[AMR][1000 genomes]
rs6711959	0.88[CHB][hapmap]
rs6714710	0.85[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs6724539	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7565744	0.89[CHB][hapmap]

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	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
2	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:98337400-98343800	Strong transcription	Fetal Thymus	thymus
15	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:98337800-98357400	Strong transcription	Dnd41	blood
17	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
18	chr2:98339200-98345800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:98340600-98346600	Weak transcription	Esophagus	oesophagus
21	chr2:98341000-98354800	Weak transcription	Gastric	stomach
22	chr2:98341200-98345800	Enhancers	Fetal Muscle Leg	muscle
23	chr2:98341400-98344000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:98341800-98343800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:98341800-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:98341800-98348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:98342000-98345600	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:98342000-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:98342000-98346400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:98342000-98347200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:98342200-98345600	Enhancers	Fetal Stomach	stomach
32	chr2:98342200-98345600	Enhancers	Left Ventricle	heart
33	chr2:98342400-98343400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:98342400-98346600	Weak transcription	Spleen	Spleen
35	chr2:98342600-98344000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
37	chr2:98342800-98343600	Weak transcription	NHDF-Ad	bronchial
38	chr2:98342800-98345200	Enhancers	Placenta	Placenta
39	chr2:98343000-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:98343200-98343800	Weak transcription	Right Ventricle	heart
41	chr2:98343200-98344200	Weak transcription	HSMMtube	muscle
42	chr2:98343200-98344400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:98343200-98344800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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