Variant report

Variant	rs17466737
Chromosome Location	chr7:7676343-7676344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7675114..7677111-chr7:8008859..8010414,2	K562	blood:
2	chr7:7673907..7678610-chr7:7678691..7681851,6	MCF-7	breast:
3	chr7:7663362..7666136-chr7:7675312..7676994,2	MCF-7	breast:
4	chr7:7675254..7676808-chr7:7682969..7685532,2	MCF-7	breast:
5	chr7:7674801..7676946-chr7:7679049..7682761,4	K562	blood:
6	chr7:7672448..7678421-chr7:7678475..7681557,8	K562	blood:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000106399	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10238404	0.84[CEU][hapmap]
rs10250780	0.84[CEU][hapmap]
rs10265112	0.84[CEU][hapmap]
rs12702624	0.84[CEU][hapmap]
rs1476647	0.84[CEU][hapmap]
rs1476648	0.84[CEU][hapmap]
rs17137078	0.82[CHB][hapmap]
rs17169194	1.00[ASW][hapmap];0.90[JPT][hapmap];1.00[MKK][hapmap]
rs17169361	0.87[MKK][hapmap]
rs17466674	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs17525274	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs1990102	0.84[CEU][hapmap]
rs2158714	0.84[CEU][hapmap]
rs2348266	0.84[CEU][hapmap]
rs28916271	0.87[MKK][hapmap]
rs28992773	0.87[MKK][hapmap]
rs3757526	0.90[JPT][hapmap];1.00[MKK][hapmap]
rs4725010	0.84[CEU][hapmap]
rs58548274	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776953	0.84[CEU][hapmap]
rs7807355	0.84[CEU][hapmap]
rs7807696	0.84[CEU][hapmap]
rs886728	0.84[CEU][hapmap]
rs886729	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7649000-7679000	Weak transcription	HSMM	muscle
2	chr7:7669000-7679000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:7671400-7679200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:7671600-7679200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:7671600-7679200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:7671800-7678800	Weak transcription	NHDF-Ad	bronchial
7	chr7:7672000-7679000	Weak transcription	Fetal Intestine Large	intestine
8	chr7:7672000-7679200	Weak transcription	Aorta	Aorta
9	chr7:7672200-7677800	Weak transcription	HepG2	liver
10	chr7:7672200-7679200	Weak transcription	Gastric	stomach
11	chr7:7672400-7678800	Weak transcription	K562	blood
12	chr7:7672400-7679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:7672400-7679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:7672400-7679000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:7672400-7679000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:7672400-7679000	Weak transcription	Fetal Brain Female	brain
17	chr7:7672400-7679200	Weak transcription	Brain Substantia Nigra	brain
18	chr7:7672600-7676600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:7672600-7679200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:7672600-7679200	Weak transcription	Ovary	ovary
21	chr7:7672600-7679400	Weak transcription	Right Ventricle	heart
22	chr7:7672800-7679000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:7672800-7679200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:7673000-7679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:7673000-7679000	Weak transcription	HUVEC	blood vessel
26	chr7:7673200-7679000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr7:7673200-7679000	Weak transcription	Fetal Kidney	kidney
28	chr7:7673400-7678800	Weak transcription	Fetal Lung	lung
29	chr7:7673400-7679000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:7673400-7679000	Weak transcription	Adipose Nuclei	Adipose
31	chr7:7673400-7679000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:7673400-7679000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:7673600-7677600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:7673600-7679000	Weak transcription	Brain Anterior Caudate	brain
35	chr7:7673600-7679000	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:7673800-7679000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:7674000-7678800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:7674000-7679000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:7674000-7679000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:7674000-7679200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:7674000-7679400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:7674200-7678200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:7674200-7678600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:7674200-7678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:7674200-7679000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:7674200-7679200	Weak transcription	Placenta	Placenta
47	chr7:7674400-7679000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:7674600-7676400	Strong transcription	A549	lung
49	chr7:7674600-7676800	Weak transcription	HMEC	breast
50	chr7:7674600-7677200	Strong transcription	Primary T cells fromperipheralblood	blood

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