Variant report

Variant	rs17545234
Chromosome Location	chr7:111371975-111371976
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110946188..110948736-chr7:111369766..111372546,2	K562	blood:
2	chr7:111201065..111203980-chr7:111370429..111371993,2	K562	blood:

Variant related genes	Relation type
ENSG00000184903	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10246451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275090	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1054188	0.95[ASN][1000 genomes]
rs11767617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971917	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12705797	1.00[ASN][1000 genomes]
rs2078984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2097712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2301678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779458	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4416770	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730498	0.84[EUR][1000 genomes]
rs6950977	1.00[CEU][hapmap];0.87[YRI][hapmap];0.87[EUR][1000 genomes]
rs73432043	0.95[ASN][1000 genomes]
rs757031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7803753	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs867915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641464	0.95[ASN][1000 genomes]
rs9641471	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9691349	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764041	chr7:110918713-111395390	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS 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	14 gene(s)	inside rSNPs	diseases
6	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
11	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111362600-111372400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:111363400-111372800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:111364200-111372000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:111364200-111378800	Weak transcription	HepG2	liver
6	chr7:111364400-111376400	Weak transcription	Right Atrium	heart
7	chr7:111365800-111372000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:111365800-111375600	Weak transcription	Osteobl	bone
9	chr7:111366400-111376400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:111366600-111376400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:111366600-111383000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:111366800-111384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:111366800-111394200	Weak transcription	Gastric	stomach
14	chr7:111367000-111372800	Weak transcription	Right Ventricle	heart
15	chr7:111367000-111375400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:111367400-111375200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:111367400-111376000	Strong transcription	HUVEC	blood vessel
18	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
19	chr7:111367600-111375000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:111367600-111375200	Strong transcription	Brain Anterior Caudate	brain
21	chr7:111368000-111378400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:111368200-111374800	Strong transcription	Fetal Lung	lung
23	chr7:111368200-111375400	Strong transcription	Lung	lung
24	chr7:111368600-111372800	Weak transcription	HSMMtube	muscle
25	chr7:111368600-111373800	Strong transcription	Brain Substantia Nigra	brain
26	chr7:111368800-111372000	Weak transcription	NHLF	lung
27	chr7:111368800-111383000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:111368800-111383200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:111368800-111383200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:111369000-111372000	Weak transcription	Aorta	Aorta
31	chr7:111369000-111373000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:111369000-111375200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:111369000-111375600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:111369000-111376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:111369000-111379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:111369000-111382000	Weak transcription	Pancreas	Pancrea
37	chr7:111369200-111372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:111369200-111372400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:111369200-111372400	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:111369200-111375200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:111369200-111379000	Weak transcription	Esophagus	oesophagus
42	chr7:111369200-111384200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:111369200-111386000	Weak transcription	Spleen	Spleen
44	chr7:111369400-111372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:111369400-111372800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:111369400-111375000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:111369800-111372000	Weak transcription	Ovary	ovary
48	chr7:111369800-111372200	Weak transcription	Fetal Stomach	stomach
49	chr7:111369800-111373000	Weak transcription	Placenta	Placenta
50	chr7:111369800-111375200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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