Variant report

Variant	rs17305218
Chromosome Location	chr1:61698824-61698825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61585743..61588547-chr1:61696808..61699066,2	K562	blood:
2	chr1:61691680..61694705-chr1:61697594..61700756,3	K562	blood:
3	chr1:61691124..61693538-chr1:61697594..61700480,2	K562	blood:
4	chr1:61698276..61700833-chr1:61735388..61737265,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17121798	0.80[CEU][hapmap]
rs17121833	0.80[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs17121835	0.80[CEU][hapmap]
rs17121845	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17305204	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17311684	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17311740	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17377134	1.00[ASW][hapmap];0.80[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes]
rs17377148	0.89[AMR][1000 genomes]
rs17377218	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17377232	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17377267	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17377274	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17377281	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17377295	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17377351	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74086705	0.89[EUR][1000 genomes]
rs74090339	0.89[EUR][1000 genomes]
rs74090351	0.89[EUR][1000 genomes]
rs7515011	0.80[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs868110	0.80[CEU][hapmap];0.89[AMR][1000 genomes]
rs9970076	0.80[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849929	chr1:61684084-61714142	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61682000-61706800	Weak transcription	Gastric	stomach
3	chr1:61690600-61699000	Weak transcription	Ovary	ovary
4	chr1:61692600-61699400	Enhancers	HepG2	liver
5	chr1:61692600-61703400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:61692800-61706800	Weak transcription	Fetal Lung	lung
7	chr1:61692800-61707000	Weak transcription	Fetal Stomach	stomach
8	chr1:61692800-61707200	Weak transcription	Pancreas	Pancrea
9	chr1:61693000-61704000	Weak transcription	Right Atrium	heart
10	chr1:61693000-61706800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:61693000-61706800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:61694000-61706800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:61694200-61699200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:61694200-61700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:61694200-61700200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:61694200-61703200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:61694200-61703200	Weak transcription	HMEC	breast
18	chr1:61694200-61703400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:61694200-61703600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:61694200-61706800	Weak transcription	Adipose Nuclei	Adipose
21	chr1:61694200-61707000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:61694400-61703600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:61696400-61703200	Weak transcription	A549	lung
24	chr1:61696600-61701600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:61696600-61701600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:61696600-61703200	Weak transcription	Brain Substantia Nigra	brain
27	chr1:61696600-61706800	Weak transcription	Right Ventricle	heart
28	chr1:61696600-61707200	Weak transcription	Left Ventricle	heart
29	chr1:61696800-61699000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:61696800-61701600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:61696800-61707000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:61696800-61707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:61696800-61707200	Weak transcription	Small Intestine	intestine
34	chr1:61697000-61701600	Weak transcription	Fetal Heart	heart
35	chr1:61697600-61699000	Weak transcription	Brain Anterior Caudate	brain
36	chr1:61697600-61699200	Enhancers	Colon Smooth Muscle	Colon
37	chr1:61697600-61699400	Enhancers	Liver	Liver
38	chr1:61697800-61699000	Weak transcription	K562	blood
39	chr1:61697800-61700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:61698200-61700000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:61698600-61699000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:61698600-61699200	Enhancers	Fetal Intestine Large	intestine
43	chr1:61698600-61699200	Enhancers	Fetal Intestine Small	intestine
44	chr1:61698800-61699000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:61698800-61699200	Enhancers	Fetal Kidney	kidney

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