Variant report

Variant	rs17361485
Chromosome Location	chr2:149540636-149540637
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:149535231..149538204-chr2:149540478..149542273,2	K562	blood:
2	chr2:149538136..149542050-chr2:149542809..149547158,6	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17780809	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1823139	0.84[ASN][1000 genomes]
rs2121431	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705826	0.84[ASN][1000 genomes]
rs6746440	0.84[ASN][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	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149495200-149542000	Weak transcription	Right Atrium	heart
2	chr2:149500200-149541200	Weak transcription	HUVEC	blood vessel
3	chr2:149508400-149545400	Weak transcription	Stomach Mucosa	stomach
4	chr2:149510200-149541000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:149510200-149541400	Weak transcription	Fetal Heart	heart
6	chr2:149510800-149542200	Weak transcription	Aorta	Aorta
7	chr2:149511800-149541200	Weak transcription	Brain Germinal Matrix	brain
8	chr2:149512400-149542200	Weak transcription	Psoas Muscle	Psoas
9	chr2:149515600-149542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:149519800-149542200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:149520600-149559000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:149522000-149541200	Weak transcription	Pancreas	Pancrea
13	chr2:149522800-149546400	Weak transcription	Right Ventricle	heart
14	chr2:149523000-149542000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:149524600-149542000	Weak transcription	Fetal Brain Male	brain
16	chr2:149524800-149549000	Weak transcription	Gastric	stomach
17	chr2:149525400-149541200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:149525800-149541600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:149528000-149541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:149528000-149541600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:149528400-149541200	Weak transcription	Esophagus	oesophagus
22	chr2:149528400-149542200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:149528600-149541800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:149529000-149546000	Weak transcription	Small Intestine	intestine
25	chr2:149529200-149540800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:149529200-149541000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:149529200-149541000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:149529200-149541000	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:149529200-149541000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:149529200-149541000	Weak transcription	HSMMtube	muscle
31	chr2:149529200-149541200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:149529200-149541600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:149529400-149541000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:149529400-149541000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:149529400-149544000	Weak transcription	A549	lung
36	chr2:149530200-149541200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:149532800-149547800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:149533000-149547600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:149534000-149546000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:149534400-149552200	Weak transcription	NHEK	skin
41	chr2:149537000-149545400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:149537200-149546600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:149537800-149545400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:149537800-149546600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:149538000-149541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:149538000-149542600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:149538000-149545200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:149538000-149545400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:149538000-149547600	Strong transcription	Dnd41	blood
50	chr2:149538600-149545400	Strong transcription	Rectal Mucosa Donor 29	rectum

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