Variant report

Variant	rs34425704
Chromosome Location	chr2:74244990-74244991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74239770..74244279-chr2:74244536..74249851,6	K562	blood:
2	chr2:74227214..74229329-chr2:74244433..74246897,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13027050	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387174	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13390332	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17009553	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34493480	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34555419	0.95[AMR][1000 genomes]
rs35015888	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35120660	0.91[EUR][1000 genomes]
rs6721042	0.80[EUR][1000 genomes]
rs6745776	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71418714	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74230400-74246800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:74230600-74248200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:74231200-74246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:74231600-74273800	Weak transcription	A549	lung
5	chr2:74233000-74247000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:74233400-74248600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:74234800-74247600	Weak transcription	HSMM	muscle
8	chr2:74235000-74258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:74235000-74259200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:74236000-74246000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:74236200-74251200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:74236400-74251400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:74236400-74259400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:74236600-74246600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:74236800-74245800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:74236800-74246800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:74236800-74247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:74237000-74246000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:74237400-74246400	Weak transcription	Fetal Brain Female	brain
20	chr2:74237400-74246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:74237400-74247000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:74237400-74247600	Weak transcription	HSMMtube	muscle
23	chr2:74237400-74247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:74237400-74252800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:74237400-74259000	Weak transcription	NHLF	lung
26	chr2:74237600-74246400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:74237600-74246400	Weak transcription	Spleen	Spleen
28	chr2:74237600-74246400	Weak transcription	Dnd41	blood
29	chr2:74237600-74246600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:74237600-74246600	Weak transcription	Gastric	stomach
31	chr2:74237600-74246600	Weak transcription	Psoas Muscle	Psoas
32	chr2:74237600-74246800	Weak transcription	Pancreas	Pancrea
33	chr2:74237600-74247400	Weak transcription	Fetal Thymus	thymus
34	chr2:74237600-74247600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:74237600-74247800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:74237600-74248400	Weak transcription	Stomach Mucosa	stomach
37	chr2:74237600-74251400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:74237600-74251600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:74237600-74252800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:74237800-74246200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:74237800-74246200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:74237800-74246200	Weak transcription	Left Ventricle	heart
43	chr2:74237800-74246400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:74237800-74246400	Weak transcription	Right Ventricle	heart
45	chr2:74237800-74246600	Weak transcription	Brain Anterior Caudate	brain
46	chr2:74237800-74246600	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:74237800-74246600	Weak transcription	Fetal Stomach	stomach
48	chr2:74237800-74246800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:74237800-74247200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:74237800-74247600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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