Variant report

Variant	rs17425982
Chromosome Location	chr2:39035620-39035621
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	chr2:38976572..38979888-chr2:39032371..39035700,3	K562	blood:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10165289	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10166557	1.00[EUR][1000 genomes]
rs10173563	1.00[EUR][1000 genomes]
rs10180775	1.00[EUR][1000 genomes]
rs10186448	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10186842	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10194533	1.00[EUR][1000 genomes]
rs10202876	1.00[EUR][1000 genomes]
rs10495882	1.00[EUR][1000 genomes]
rs12329307	1.00[EUR][1000 genomes]
rs13382974	1.00[EUR][1000 genomes]
rs13395448	1.00[EUR][1000 genomes]
rs13396461	1.00[EUR][1000 genomes]
rs13399254	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13409776	1.00[EUR][1000 genomes]
rs13420732	1.00[EUR][1000 genomes]
rs13421894	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1451278	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023037	1.00[EUR][1000 genomes]
rs17023042	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023045	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023148	1.00[EUR][1000 genomes]
rs17023149	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17023214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1901290	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2218850	1.00[EUR][1000 genomes]
rs2373466	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2373472	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28473018	1.00[EUR][1000 genomes]
rs28499207	1.00[EUR][1000 genomes]
rs3099938	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099947	1.00[CEU][hapmap]
rs3099953	1.00[EUR][1000 genomes]
rs3099973	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3099986	1.00[EUR][1000 genomes]
rs3099996	1.00[EUR][1000 genomes]
rs3099997	1.00[EUR][1000 genomes]
rs3112145	1.00[EUR][1000 genomes]
rs3112146	1.00[EUR][1000 genomes]
rs3112148	1.00[EUR][1000 genomes]
rs3112155	1.00[EUR][1000 genomes]
rs3112157	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112158	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112160	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112164	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs3112174	1.00[EUR][1000 genomes]
rs3112176	1.00[CEU][hapmap]
rs3112177	1.00[EUR][1000 genomes]
rs60703378	1.00[EUR][1000 genomes]
rs6751306	1.00[EUR][1000 genomes]
rs6753426	1.00[EUR][1000 genomes]
rs72916836	1.00[EUR][1000 genomes]
rs72916860	1.00[EUR][1000 genomes]
rs9678084	1.00[CEU][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39005800-39037400	Weak transcription	Esophagus	oesophagus
2	chr2:39006000-39037600	Weak transcription	Aorta	Aorta
3	chr2:39006000-39037600	Weak transcription	Gastric	stomach
4	chr2:39006400-39037800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:39006400-39045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:39006400-39085600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:39006600-39038200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:39009000-39037400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:39009200-39037600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:39009200-39037600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:39009200-39037600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:39009200-39037600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:39009200-39037600	Weak transcription	NHDF-Ad	bronchial
14	chr2:39009200-39037800	Weak transcription	NHEK	skin
15	chr2:39009200-39042600	Weak transcription	Fetal Kidney	kidney
16	chr2:39009200-39050000	Weak transcription	HMEC	breast
17	chr2:39009200-39052800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:39009400-39037600	Weak transcription	NHLF	lung
19	chr2:39009600-39037600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:39009600-39037600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:39012000-39037600	Weak transcription	Pancreas	Pancrea
22	chr2:39012200-39037600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:39017600-39042200	Weak transcription	Small Intestine	intestine
24	chr2:39018400-39037600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:39019000-39057800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr2:39021400-39038000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:39021600-39038000	Weak transcription	Colonic Mucosa	Colon
28	chr2:39022000-39042600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:39022000-39066800	Weak transcription	Stomach Mucosa	stomach
30	chr2:39022400-39037400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:39024000-39053000	Weak transcription	Psoas Muscle	Psoas
32	chr2:39025400-39038000	Weak transcription	HUVEC	blood vessel
33	chr2:39025600-39037600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:39025600-39042400	Weak transcription	Hela-S3	cervix
35	chr2:39025600-39042400	Weak transcription	HSMM	muscle
36	chr2:39025800-39037400	Weak transcription	Liver	Liver
37	chr2:39025800-39037800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:39026000-39037600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:39026600-39079800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:39030000-39037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:39030000-39040800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:39030200-39037400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:39030200-39037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:39030200-39037600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:39030600-39037400	Weak transcription	Spleen	Spleen
46	chr2:39030600-39037600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:39030600-39037600	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:39030600-39037600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:39030600-39088200	Weak transcription	Fetal Heart	heart
50	chr2:39032400-39037000	Weak transcription	Fetal Intestine Small	intestine

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