Variant report

Variant	rs581706
Chromosome Location	chr7:6098301-6098302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6082731..6088079-chr7:6097012..6099885,4	MCF-7	breast:
2	chr7:6094946..6099638-chr7:6140891..6146239,12	K562	blood:
3	chr7:6047262..6048916-chr7:6096593..6098744,2	MCF-7	breast:
4	chr7:6064770..6067105-chr7:6097512..6099982,2	K562	blood:
5	chr17:73775471..73776083-chr7:6098263..6099168,2	HCT-116	colon:
6	chr7:6096872..6099965-chr7:6142845..6147736,5	MCF-7	breast:
7	chr7:6096078..6098948-chr7:6116857..6121575,6	K562	blood:
8	chr7:6095667..6100309-chr7:6118978..6123029,12	MCF-7	breast:
9	chr7:6098132..6100139-chr8:109454851..109457294,2	MCF-7	breast:
10	chr7:6062377..6067234-chr7:6094768..6099711,6	K562	blood:
11	chr7:5631641..5634228-chr7:6097200..6099216,2	K562	blood:
12	chr7:6055912..6057708-chr7:6097324..6099828,2	MCF-7	breast:
13	chr7:6098260..6098761-chr9:130213078..130213905,2	Hela-S3	cervix:
14	chr7:6096763..6100631-chr7:6141376..6146373,15	MCF-7	breast:
15	chr7:6097184..6100296-chr7:6118283..6122245,9	MCF-7	breast:
16	chr7:6047579..6050679-chr7:6097211..6100186,3	MCF-7	breast:
17	chr7:6094497..6101614-chr7:6140891..6145784,14	K562	blood:
18	chr7:6047930..6051239-chr7:6095534..6098918,6	K562	blood:
19	chr7:6048500..6051239-chr7:6096959..6099959,3	K562	blood:
20	chr7:6097568..6100190-chr7:6387069..6389785,3	MCF-7	breast:
21	chr7:6090422..6101465-chr7:6116449..6124326,16	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231704	Chromatin interaction
ENSG00000264605	Chromatin interaction
ENSG00000104412	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000178397	Chromatin interaction
ENSG00000240718	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000207217	Chromatin interaction
ENSG00000106305	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10951974	0.82[EUR][1000 genomes]
rs11769380	0.86[CEU][hapmap]
rs12672450	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17136307	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.95[MKK][hapmap];0.85[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17136342	0.83[LWK][hapmap];0.90[MKK][hapmap]
rs17343667	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240816	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286681	0.92[CEU][hapmap];0.86[GIH][hapmap];0.89[LWK][hapmap]
rs2302333	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302334	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3779106	0.92[CEU][hapmap];0.86[GIH][hapmap];0.89[LWK][hapmap];0.82[EUR][1000 genomes]
rs3801030	0.86[LWK][hapmap];0.92[MKK][hapmap];0.86[YRI][hapmap]
rs4560	0.93[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];0.85[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4724769	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs485254	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs495124	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs551796	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs558030	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62456190	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62456200	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62456202	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs628454	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs629235	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs631491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs642987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs646156	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs646160	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs655692	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661439	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs685415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs686680	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73331344	0.82[EUR][1000 genomes]
rs852138	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852151	0.86[JPT][hapmap]
rs852154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs865901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv605998	chr7:6035065-6102034	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv1018388	chr7:6038713-6131169	Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
14	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
15	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
16	esv3405881	chr7:6087760-6122016	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs581706	EIF2AK1	Cis_1M	lymphoblastoid	RTeQTL
rs581706	EIF2AK1	cis	lymphoblastoid	seeQTL
rs581706	EIF2AK1	cis	multi-tissue	Pritchard
rs581706	EIF2AK1	cis	cerebellum	SCAN
rs581706	EIF2AK1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6095400-6099400	Active TSS	K562	blood
2	chr7:6096400-6099200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:6096400-6099200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:6096600-6098400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:6096800-6099000	Active TSS	HMEC	breast
6	chr7:6096800-6099400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:6096800-6099400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:6097000-6098600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:6097000-6098600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:6097000-6098600	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr7:6097000-6099000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:6097000-6099200	Active TSS	Placenta	Placenta
13	chr7:6097000-6099400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:6097000-6099400	Active TSS	Fetal Stomach	stomach
15	chr7:6097000-6099400	Active TSS	NHLF	lung
16	chr7:6097200-6098400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr7:6097200-6099200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr7:6097200-6099200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:6097200-6099200	Active TSS	Gastric	stomach
20	chr7:6097200-6099400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:6097200-6099400	Active TSS	A549	lung
22	chr7:6097200-6099400	Active TSS	HSMM	muscle
23	chr7:6097400-6098400	Flanking Active TSS	Liver	Liver
24	chr7:6097400-6098600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:6097400-6098600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr7:6097400-6098600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:6097400-6098600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr7:6097400-6099000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:6097400-6099000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:6097400-6099000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:6097400-6099200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:6097400-6099400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:6097600-6098400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr7:6097600-6098400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr7:6097600-6098400	Flanking Active TSS	Thymus	Thymus
36	chr7:6097600-6098400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr7:6097600-6098600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr7:6097600-6098800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr7:6097600-6099200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:6097600-6099200	Active TSS	Aorta	Aorta
41	chr7:6097600-6099200	Active TSS	Duodenum Mucosa	Duodenum
42	chr7:6097600-6099200	Active TSS	Ovary	ovary
43	chr7:6097600-6099200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr7:6097600-6099200	Active TSS	Right Ventricle	heart
45	chr7:6097600-6099200	Active TSS	HSMMtube	muscle
46	chr7:6097600-6099400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:6097600-6099400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:6097800-6098400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr7:6097800-6098400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:6097800-6098400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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