Variant report

Variant	rs894149
Chromosome Location	chr8:96244012-96244013
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96236593..96238582-chr8:96243971..96246452,2	K562	blood:
2	chr8:96145482..96148403-chr8:96241783..96244505,2	MCF-7	breast:
3	chr8:96145223..96147405-chr8:96242438..96245086,2	MCF-7	breast:
4	chr8:96037192..96039493-chr8:96242564..96245463,2	MCF-7	breast:
5	chr8:96232022..96234358-chr8:96242400..96245249,2	K562	blood:
6	chr8:96239016..96241801-chr8:96243185..96245921,2	MCF-7	breast:
7	chr8:96243081..96246840-chr8:96248821..96252281,5	K562	blood:
8	chr8:96228560..96230239-chr8:96242060..96244919,2	MCF-7	breast:
9	chr8:96241648..96244611-chr8:96247721..96251221,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253351	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs13250483	0.89[CEU][hapmap]
rs13252268	0.85[CEU][hapmap]
rs13260234	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267037	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267333	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267612	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271205	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272104	0.86[CEU][hapmap]
rs13276119	0.86[CEU][hapmap]
rs13276926	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278690	0.89[CEU][hapmap]
rs1994794	1.00[ASN][1000 genomes]
rs34196697	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34289076	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389602	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34463279	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34962193	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141355	1.00[ASN][1000 genomes]
rs35175236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195888	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35273564	1.00[ASN][1000 genomes]
rs35511040	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35530445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543354	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559164	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690795	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35809593	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032317	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36096184	1.00[ASN][1000 genomes]
rs55677759	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186143	1.00[ASN][1000 genomes]
rs56237137	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57183551	1.00[ASN][1000 genomes]
rs58191899	1.00[ASN][1000 genomes]
rs58229316	1.00[ASN][1000 genomes]
rs58471124	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58979833	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59707579	1.00[ASN][1000 genomes]
rs60835162	1.00[ASN][1000 genomes]
rs61185934	1.00[ASN][1000 genomes]
rs61730929	1.00[ASN][1000 genomes]
rs61730932	1.00[ASN][1000 genomes]
rs61995709	1.00[ASN][1000 genomes]
rs61997199	1.00[ASN][1000 genomes]
rs6471526	1.00[ASN][1000 genomes]
rs7004873	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532351	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532352	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532353	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266490	1.00[ASN][1000 genomes]
rs73268303	1.00[ASN][1000 genomes]
rs73268328	1.00[ASN][1000 genomes]
rs73695429	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695431	1.00[ASN][1000 genomes]
rs73695432	1.00[ASN][1000 genomes]
rs73695433	1.00[ASN][1000 genomes]
rs73695435	1.00[ASN][1000 genomes]
rs73695436	1.00[ASN][1000 genomes]
rs73695437	1.00[ASN][1000 genomes]
rs73695438	1.00[ASN][1000 genomes]
rs73695439	1.00[ASN][1000 genomes]
rs7814173	1.00[ASN][1000 genomes]
rs7815085	1.00[ASN][1000 genomes]
rs7841828	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
3	chr8:96238600-96244800	Weak transcription	Left Ventricle	heart
4	chr8:96238600-96246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:96239000-96244800	Weak transcription	Right Ventricle	heart
7	chr8:96239200-96246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:96239600-96244600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr8:96239800-96244400	Weak transcription	Fetal Stomach	stomach
10	chr8:96240400-96244200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:96241000-96246800	Weak transcription	HepG2	liver
12	chr8:96241200-96245000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:96241800-96244600	Weak transcription	Lung	lung
14	chr8:96241800-96245000	Weak transcription	Esophagus	oesophagus
15	chr8:96242000-96245200	Enhancers	Fetal Muscle Leg	muscle
16	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:96242400-96244200	Enhancers	Thymus	Thymus
18	chr8:96242600-96245600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:96242800-96246000	Enhancers	Fetal Thymus	thymus
20	chr8:96243000-96244200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:96243000-96244400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:96243200-96245200	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:96243600-96244200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:96243800-96244200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:96243800-96245400	Enhancers	Fetal Heart	heart
26	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:96244000-96244200	Enhancers	Right Atrium	heart
28	chr8:96244000-96244200	Enhancers	GM12878-XiMat	blood
29	chr8:96244000-96247400	Weak transcription	Fetal Intestine Large	intestine
30	chr8:96244000-96250000	Weak transcription	Spleen	Spleen

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