Variant report

Variant	rs10101280
Chromosome Location	chr8:87359495-87359496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:87359460-87359610	GM12872	blood:	n/a	n/a
2	CTCF	chr8:87359420-87359570	BJ	skin:	n/a	n/a
3	CTCF	chr8:87359480-87359630	BE2_C	brain:	n/a	n/a
4	CTCF	chr8:87359380-87359530	HRE	kidney:	n/a	n/a
5	CTCF	chr8:87359440-87359590	GM12864	blood:	n/a	n/a
6	CTCF	chr8:87359380-87359530	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:87359480-87359630	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:87359420-87359570	SAEC	small airway:	n/a	n/a
9	CTCF	chr8:87359460-87359610	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr8:87359440-87359590	GM12873	blood:	n/a	n/a
11	CTCF	chr8:87359480-87359630	HMEC	breast:	n/a	n/a
12	CTCF	chr8:87359460-87359610	HCT-116	colon:	n/a	n/a
13	CTCF	chr8:87359480-87359630	HPF	lung:	n/a	n/a
14	CTCF	chr8:87359480-87359630	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr8:87359460-87359610	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr8:87359480-87359630	GM12870	blood:	n/a	n/a
17	CTCF	chr8:87359460-87359610	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr8:87359420-87359570	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr8:87359420-87359570	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr8:87359480-87359630	GM12865	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87358214..87359951-chr8:87363594..87365378,2	K562	blood:
2	chr8:87127285..87128795-chr8:87356726..87359670,2	MCF-7	breast:
3	chr8:87304779..87307232-chr8:87358257..87360787,2	MCF-7	breast:
4	chr8:87146111..87148052-chr8:87358849..87360732,2	MCF-7	breast:
5	chr8:87160493..87162420-chr8:87358494..87360237,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254231	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10090107	0.89[EUR][1000 genomes]
rs10101337	0.89[EUR][1000 genomes]
rs10106735	0.89[EUR][1000 genomes]
rs16907490	0.89[EUR][1000 genomes]
rs16911667	0.89[EUR][1000 genomes]
rs16912199	0.89[EUR][1000 genomes]
rs16914543	0.89[EUR][1000 genomes]
rs28446298	0.89[EUR][1000 genomes]
rs28504305	0.89[EUR][1000 genomes]
rs28801137	0.89[EUR][1000 genomes]
rs3916649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56280479	0.89[EUR][1000 genomes]
rs60177164	0.89[EUR][1000 genomes]
rs61661701	0.89[EUR][1000 genomes]
rs73254743	0.89[EUR][1000 genomes]
rs73271003	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73688826	0.89[EUR][1000 genomes]
rs7812422	0.89[EUR][1000 genomes]
rs7839610	0.89[EUR][1000 genomes]
rs7841007	0.89[EUR][1000 genomes]
rs7841939	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3441725	chr8:87342885-87359895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87363600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:87355800-87363800	Weak transcription	Esophagus	oesophagus
3	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
5	chr8:87357000-87362800	Weak transcription	Fetal Kidney	kidney
6	chr8:87357000-87366400	Weak transcription	Fetal Lung	lung
7	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:87357200-87360600	Weak transcription	Fetal Stomach	stomach
9	chr8:87357200-87360600	Weak transcription	Osteobl	bone
10	chr8:87357200-87365000	Weak transcription	Brain Substantia Nigra	brain
11	chr8:87357200-87366000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:87357200-87368800	Weak transcription	Primary B cells from cord blood	blood
13	chr8:87357200-87369600	Weak transcription	HSMM	muscle
14	chr8:87357400-87359600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:87357400-87360000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:87357400-87361000	Weak transcription	Gastric	stomach
17	chr8:87357400-87361600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:87357400-87361800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:87357400-87362200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:87357400-87362800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:87357400-87363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:87357400-87363000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:87357400-87364400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:87357400-87364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:87357400-87364600	Weak transcription	Lung	lung
26	chr8:87357400-87367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:87357400-87368000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:87357400-87372600	Weak transcription	Fetal Intestine Small	intestine
29	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:87357600-87360200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:87357600-87360800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:87357600-87361000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:87357600-87361600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:87357600-87361600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:87357600-87361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:87357600-87361800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:87357600-87361800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:87357600-87361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:87357600-87361800	Weak transcription	Right Atrium	heart
40	chr8:87357600-87361800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:87357600-87362000	Weak transcription	Right Ventricle	heart
42	chr8:87357600-87362600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:87357600-87364200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:87357600-87364800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:87357600-87364800	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:87357600-87364800	Weak transcription	K562	blood
47	chr8:87357600-87366000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:87357600-87368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:87357600-87368800	Weak transcription	Brain Angular Gyrus	brain
50	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel

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