Variant report

Variant	rs55677759
Chromosome Location	chr8:96242519-96242520
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96145482..96148403-chr8:96241783..96244505,2	MCF-7	breast:
2	chr8:96145223..96147405-chr8:96242438..96245086,2	MCF-7	breast:
3	chr8:96143545..96145795-chr8:96241070..96242615,2	K562	blood:
4	chr8:96232022..96234358-chr8:96242400..96245249,2	K562	blood:
5	chr8:96240965..96243166-chr8:96252025..96254042,3	K562	blood:
6	chr8:96238086..96240049-chr8:96241356..96243074,2	K562	blood:
7	chr8:96240789..96242805-chr8:96252372..96254385,3	K562	blood:
8	chr8:96228560..96230239-chr8:96242060..96244919,2	MCF-7	breast:
9	chr8:96241997..96243931-chr8:96244182..96247053,2	MCF-7	breast:
10	chr8:96241566..96243964-chr8:96265502..96267289,2	K562	blood:
11	chr8:96241648..96244611-chr8:96247721..96251221,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction
ENSG00000253351	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs13260234	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267037	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267333	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267612	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271205	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276926	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994794	1.00[ASN][1000 genomes]
rs34196697	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34289076	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34389602	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34463279	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34861861	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34962193	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141355	1.00[ASN][1000 genomes]
rs35175236	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35195888	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35273564	1.00[ASN][1000 genomes]
rs35511040	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35530445	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35543354	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35559164	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690795	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35809593	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032317	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36096184	1.00[ASN][1000 genomes]
rs56186143	1.00[ASN][1000 genomes]
rs56237137	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[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	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58979833	0.96[AMR][1000 genomes];1.00[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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532351	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532352	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532353	0.91[AMR][1000 genomes];1.00[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[AMR][1000 genomes];1.00[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]
rs894149	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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:33 , 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	chr8:96238800-96243800	Weak transcription	Fetal Heart	heart
6	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:96239000-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:96239000-96244000	Weak transcription	Right Atrium	heart
9	chr8:96239000-96244800	Weak transcription	Right Ventricle	heart
10	chr8:96239200-96246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:96239600-96244600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr8:96239800-96244400	Weak transcription	Fetal Stomach	stomach
13	chr8:96240400-96244200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:96241000-96243800	Enhancers	Primary hematopoietic stem cells	blood
15	chr8:96241000-96246800	Weak transcription	HepG2	liver
16	chr8:96241200-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:96241200-96245000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:96241400-96243200	Weak transcription	Primary T cells from cord blood	blood
19	chr8:96241400-96243600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:96241400-96243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:96241400-96244000	Enhancers	K562	blood
22	chr8:96241800-96243200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:96241800-96243400	Enhancers	GM12878-XiMat	blood
24	chr8:96241800-96243600	Weak transcription	Spleen	Spleen
25	chr8:96241800-96244600	Weak transcription	Lung	lung
26	chr8:96241800-96245000	Weak transcription	Esophagus	oesophagus
27	chr8:96242000-96242600	Enhancers	HSMMtube	muscle
28	chr8:96242000-96243400	Weak transcription	Fetal Intestine Large	intestine
29	chr8:96242000-96243600	Weak transcription	Fetal Intestine Small	intestine
30	chr8:96242000-96245200	Enhancers	Fetal Muscle Leg	muscle
31	chr8:96242200-96242600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:96242400-96244200	Enhancers	Thymus	Thymus

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