Variant report

Variant	rs17311684
Chromosome Location	chr1:61712081-61712082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:61711526..61714321-chr1:61724717..61727346,2	MCF-7	breast:
2	chr1:61705176..61707440-chr1:61708242..61713126,6	K562	blood:
3	chr1:61710529..61714142-chr1:61715404..61719608,9	K562	blood:
4	chr1:61543393..61545559-chr1:61710850..61712816,2	K562	blood:

Variant related genes	Relation type
ENSG00000237853	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11806791	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336184	1.00[ASN][1000 genomes]
rs17121798	0.82[CEU][hapmap]
rs17121833	0.80[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121835	0.82[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121841	0.80[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121845	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17305204	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17305218	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17311740	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17377134	0.80[CEU][hapmap]
rs17377218	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17377232	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17377267	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377274	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377281	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377295	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17377351	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs59708846	0.82[EUR][1000 genomes]
rs61593957	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911905	1.00[ASN][1000 genomes]
rs72929847	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74086705	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090327	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090339	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090351	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515011	0.80[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868110	0.82[CEU][hapmap]
rs9970076	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs9970140	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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
6	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats 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	3 gene(s)	inside rSNPs	diseases
7	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61680000-61720200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61703600-61713600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:61704600-61713400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:61704600-61713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:61705400-61715200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:61707200-61713400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:61707400-61718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:61707400-61718800	Weak transcription	Gastric	stomach
9	chr1:61707600-61719000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:61707800-61718600	Weak transcription	Stomach Mucosa	stomach
11	chr1:61708000-61712200	Enhancers	Colon Smooth Muscle	Colon
12	chr1:61708000-61712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:61708000-61713600	Weak transcription	A549	lung
14	chr1:61708000-61718800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:61708000-61720400	Weak transcription	Colonic Mucosa	Colon
16	chr1:61709600-61719000	Weak transcription	Lung	lung
17	chr1:61710200-61712400	Weak transcription	K562	blood
18	chr1:61710200-61712800	Weak transcription	Ovary	ovary
19	chr1:61710200-61713000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:61710200-61713000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:61710200-61713000	Weak transcription	Left Ventricle	heart
22	chr1:61710200-61713000	Weak transcription	Pancreas	Pancrea
23	chr1:61710200-61713000	Weak transcription	Psoas Muscle	Psoas
24	chr1:61710200-61713000	Weak transcription	Right Atrium	heart
25	chr1:61710200-61713000	Weak transcription	Right Ventricle	heart
26	chr1:61710200-61713000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:61710200-61713000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:61710200-61715600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:61710200-61715600	Weak transcription	Fetal Heart	heart
30	chr1:61710200-61716600	Weak transcription	Brain Angular Gyrus	brain
31	chr1:61710200-61718800	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:61710200-61718800	Weak transcription	Small Intestine	intestine
33	chr1:61710200-61720400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:61710400-61712400	Weak transcription	Fetal Brain Male	brain
35	chr1:61710400-61712600	Weak transcription	HepG2	liver
36	chr1:61710400-61712800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:61710400-61712800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:61710400-61712800	Weak transcription	Fetal Brain Female	brain
39	chr1:61710400-61713000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:61710400-61713200	Weak transcription	Liver	Liver
41	chr1:61710400-61718800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:61710400-61718800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:61710400-61718800	Weak transcription	Fetal Stomach	stomach
44	chr1:61710600-61713200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:61710600-61713400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:61710600-61713800	Weak transcription	Adipose Nuclei	Adipose
47	chr1:61710600-61713800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:61710600-61716000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:61710800-61713000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:61710800-61713000	Weak transcription	Brain Substantia Nigra	brain

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