Variant report

Variant	rs7004004
Chromosome Location	chr8:61185013-61185014
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61184957..61187157-chr8:61191809..61194073,2	MCF-7	breast:
2	chr8:61183511..61185456-chr8:61289764..61291425,2	K562	blood:
3	chr8:61184779..61186799-chr8:61217121..61219019,2	K562	blood:
4	chr8:61111596..61113281-chr8:61182095..61185026,2	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10086341	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093008	0.91[AFR][1000 genomes]
rs10097537	0.91[AFR][1000 genomes]
rs10101374	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957128	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774698	0.88[AFR][1000 genomes]
rs11774872	0.90[AFR][1000 genomes]
rs11781514	0.88[AFR][1000 genomes]
rs11994317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266513	0.87[AFR][1000 genomes]
rs13267008	0.91[AFR][1000 genomes]
rs13269948	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13272076	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480339	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1824999	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1904780	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737556	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471856	0.87[AFR][1000 genomes]
rs6471857	0.91[ASW][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6471858	0.91[ASW][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6471859	0.91[AFR][1000 genomes]
rs6471860	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983830	0.91[AFR][1000 genomes]
rs6998446	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001157	0.83[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7002077	0.82[AFR][1000 genomes]
rs7002369	0.91[ASW][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7002846	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002871	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7463930	0.90[AFR][1000 genomes]
rs7463939	0.91[AFR][1000 genomes]
rs7464181	0.93[AFR][1000 genomes]
rs7464531	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813357	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825247	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826329	0.90[AFR][1000 genomes]
rs7832419	0.91[AFR][1000 genomes]
rs7840279	0.91[AFR][1000 genomes]
rs7841396	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845524	0.91[AFR][1000 genomes]
rs8180936	0.87[YRI][hapmap]
rs9643367	0.87[YRI][hapmap]
rs9643368	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7004004	CA8	cis	lung	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61164200-61186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:61167000-61193200	Weak transcription	Gastric	stomach
3	chr8:61167000-61193200	Weak transcription	Lung	lung
4	chr8:61167000-61193200	Weak transcription	Pancreas	Pancrea
5	chr8:61167600-61186400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:61172600-61185800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:61172800-61191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:61173000-61187600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:61174600-61186600	Strong transcription	K562	blood
10	chr8:61178000-61185200	Weak transcription	A549	lung
11	chr8:61178000-61191000	Weak transcription	Fetal Stomach	stomach
12	chr8:61178200-61185200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:61179800-61191000	Weak transcription	Fetal Intestine Small	intestine
14	chr8:61181600-61186200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:61182200-61186600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:61184800-61187000	Weak transcription	Brain Anterior Caudate	brain
17	chr8:61184800-61187000	Weak transcription	Fetal Intestine Large	intestine
18	chr8:61184800-61187400	Enhancers	Fetal Thymus	thymus
19	chr8:61184800-61190400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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