Variant report

Variant	rs6716028
Chromosome Location	chr2:7237262-7237263
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:6966176..6966703-chr2:7237030..7237946,2	K562	blood:
2	chr2:7229093..7231064-chr2:7236083..7237840,2	K562	blood:
3	chr2:7236959..7238040-chr2:7251483..7252448,5	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17669966	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670063	0.94[AMR][1000 genomes]
rs55910201	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56129949	0.82[EUR][1000 genomes]
rs56329647	0.83[AMR][1000 genomes]
rs57541858	0.82[EUR][1000 genomes]
rs62105873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107983	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72783735	0.83[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	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv437276	chr2:7229170-7246387	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv437277	chr2:7229170-7246387	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7224600-7237400	Weak transcription	Dnd41	blood
2	chr2:7226400-7237600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:7232000-7237600	Weak transcription	Ovary	ovary
4	chr2:7233800-7237800	Weak transcription	Gastric	stomach
5	chr2:7234400-7237400	Weak transcription	Fetal Heart	heart
6	chr2:7234600-7237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:7234800-7237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:7234800-7237600	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:7234800-7249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:7235000-7237600	Weak transcription	Primary T cells from cord blood	blood
11	chr2:7235200-7237600	Weak transcription	Fetal Lung	lung
12	chr2:7235400-7237600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:7235400-7237600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:7235400-7237600	Weak transcription	Pancreas	Pancrea
15	chr2:7235600-7237400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:7235600-7237600	Weak transcription	Fetal Kidney	kidney
17	chr2:7235800-7237800	Weak transcription	Spleen	Spleen
18	chr2:7236800-7237800	Enhancers	NH-A	brain
19	chr2:7236800-7238000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:7237000-7237400	Enhancers	Brain Angular Gyrus	brain
21	chr2:7237200-7237400	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:7237200-7237400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr2:7237200-7237400	Flanking Active TSS	Fetal Brain Female	brain
24	chr2:7237200-7237600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:7237200-7237600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:7237200-7237600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:7237200-7237600	Enhancers	A549	lung
28	chr2:7237200-7238000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:7237200-7238000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:7237200-7238000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:7237200-7238000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:7237200-7238000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:7237200-7238200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:7237200-7238200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:7237200-7238200	Enhancers	Fetal Brain Male	brain
36	chr2:7237200-7238200	Enhancers	Fetal Muscle Leg	muscle
37	chr2:7237200-7238400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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