Variant report

Variant	rs221005
Chromosome Location	chr7:100401433-100401434
allele	C/T
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:100401429..100403627-chr7:100416353..100418950,2	MCF-7	breast:
2	chr7:100398509..100403276-chr7:100410135..100416305,9	MCF-7	breast:
3	chr7:100399548..100403000-chr7:100411556..100414718,4	MCF-7	breast:
4	chr7:100397131..100401611-chr7:100484722..100488354,5	MCF-7	breast:
5	chr7:100396968..100399232-chr7:100399904..100402635,3	K562	blood:
6	chr7:100395173..100397781-chr7:100398399..100402175,4	K562	blood:
7	chr7:100026015..100028252-chr7:100398886..100401457,2	K562	blood:
8	chr7:100398052..100401560-chr7:100421324..100424929,6	K562	blood:
9	chr7:100301574..100304294-chr7:100400170..100402239,2	MCF-7	breast:
10	chr7:100398804..100401512-chr7:100476210..100478233,3	MCF-7	breast:
11	chr7:100399055..100403429-chr7:100463103..100465851,4	MCF-7	breast:
12	chr7:100393512..100397050-chr7:100397578..100401575,4	MCF-7	breast:
13	chr7:100399943..100402662-chr7:100404200..100406231,2	K562	blood:
14	chr7:100026362..100028252-chr7:100399957..100402614,2	K562	blood:
15	chr7:100395722..100403808-chr7:100446660..100452489,13	K562	blood:
16	chr7:100400738..100403633-chr7:100407631..100410567,3	MCF-7	breast:
17	chr7:100398724..100401678-chr7:100401884..100405733,4	MCF-7	breast:
18	chr7:100399090..100401592-chr7:100485273..100488310,3	K562	blood:
19	chr7:100394796..100404152-chr7:100420595..100427156,30	MCF-7	breast:
20	chr7:100398877..100402818-chr7:100471202..100474320,4	MCF-7	breast:
21	chr7:100396860..100402994-chr7:100420596..100426493,12	MCF-7	breast:
22	chr7:100399511..100403808-chr7:100446884..100450905,4	K562	blood:
23	chr7:100398915..100401740-chr7:100464391..100466395,2	MCF-7	breast:
24	chr7:100395163..100402625-chr7:100430790..100439308,9	K562	blood:
25	chr7:100399561..100402161-chr7:100485352..100488986,3	MCF-7	breast:
26	chr7:100401192..100404144-chr7:100407945..100410039,3	K562	blood:
27	chr7:100398676..100402755-chr7:100422988..100426913,7	K562	blood:
28	chr7:100399758..100401974-chr7:100433436..100436499,4	MCF-7	breast:
29	chr7:100394911..100396702-chr7:100397930..100402175,4	K562	blood:
30	chr7:100400928..100404046-chr7:100404200..100407081,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176125	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000263672	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12667888	1.00[CHB][hapmap]
rs12705092	1.00[CHB][hapmap]
rs160602	0.94[ASN][1000 genomes]
rs17884589	1.00[CHB][hapmap]
rs221805	0.94[ASN][1000 genomes]
rs314296	0.94[ASN][1000 genomes]
rs314300	0.94[ASN][1000 genomes]
rs314304	0.94[ASN][1000 genomes]
rs314306	0.94[ASN][1000 genomes]
rs314307	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs314308	1.00[CHB][hapmap]
rs314311	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs314312	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs314313	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs314316	1.00[CHB][hapmap]
rs314317	0.85[AMR][1000 genomes]
rs314324	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs314337	1.00[ASN][1000 genomes]
rs314342	1.00[ASN][1000 genomes]
rs314345	1.00[ASN][1000 genomes]
rs314346	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs314354	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314360	0.94[ASN][1000 genomes]
rs314361	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs314364	1.00[ASN][1000 genomes]
rs314365	1.00[ASN][1000 genomes]
rs314366	1.00[ASN][1000 genomes]
rs314370	1.00[CHB][hapmap]
rs314373	1.00[CHB][hapmap]
rs3757868	1.00[CHB][hapmap]
rs6706	1.00[CHB][hapmap]
rs71557203	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100396200-100401800	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:100397000-100401800	Enhancers	Ovary	ovary
3	chr7:100397200-100401600	Enhancers	Pancreas	Pancrea
4	chr7:100397400-100401800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:100397600-100402400	Weak transcription	Brain Germinal Matrix	brain
6	chr7:100397800-100401800	Enhancers	Lung	lung
7	chr7:100398400-100401800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:100398600-100401800	Enhancers	Esophagus	oesophagus
9	chr7:100398600-100401800	Enhancers	Fetal Heart	heart
10	chr7:100398800-100403200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:100399000-100402000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr7:100399000-100403400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:100399200-100401600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr7:100399200-100402000	Enhancers	Fetal Thymus	thymus
15	chr7:100399400-100401800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:100399400-100401800	Genic enhancers	Fetal Stomach	stomach
17	chr7:100399400-100402000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:100399600-100401800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:100399600-100401800	Enhancers	NH-A	brain
20	chr7:100399600-100401800	Enhancers	NHDF-Ad	bronchial
21	chr7:100399600-100402000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:100399600-100403000	Genic enhancers	HUVEC	blood vessel
23	chr7:100399600-100403200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:100399600-100422200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:100399600-100422200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:100399800-100401800	Genic enhancers	Fetal Intestine Small	intestine
27	chr7:100399800-100402000	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr7:100399800-100422400	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr7:100399800-100422400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:100400000-100401800	Enhancers	Primary B cells from cord blood	blood
31	chr7:100400000-100401800	Enhancers	Thymus	Thymus
32	chr7:100400000-100402400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:100400000-100422200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:100400200-100403400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:100400200-100405600	Weak transcription	Fetal Kidney	kidney
36	chr7:100400400-100401800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:100400400-100401800	Genic enhancers	Fetal Intestine Large	intestine
38	chr7:100400400-100422200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:100400600-100401600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:100400600-100401600	Enhancers	Small Intestine	intestine
41	chr7:100400600-100401600	Flanking Active TSS	GM12878-XiMat	blood
42	chr7:100400600-100401600	Genic enhancers	HepG2	liver
43	chr7:100400600-100401600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:100400600-100401800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:100400600-100401800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:100400600-100401800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:100400600-100401800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:100400600-100401800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:100400600-100401800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:100400600-100402000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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