Variant report

Variant	rs4717544
Chromosome Location	chr7:70167451-70167452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10267150	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17684191	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2141205	0.84[ASN][1000 genomes]
rs4524668	0.92[ASN][1000 genomes]
rs4610627	0.92[ASN][1000 genomes]
rs4717543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4717545	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60167668	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61348062	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6959578	0.85[ASN][1000 genomes]
rs6961699	0.92[ASN][1000 genomes]
rs73435057	0.89[EUR][1000 genomes]
rs7809035	0.87[ASN][1000 genomes]
rs9638591	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1031761	chr7:70125949-70182744	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv538933	chr7:70125949-70182744	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70161200-70169400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
2	chr7:70161400-70172600	Weak transcription	Left Ventricle	heart
3	chr7:70161400-70174800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:70161400-70178000	Weak transcription	Lung	lung
5	chr7:70161600-70168600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:70161600-70172200	Weak transcription	Ovary	ovary
7	chr7:70161600-70173000	Weak transcription	Colonic Mucosa	Colon
8	chr7:70161800-70167600	Weak transcription	NH-A	brain
9	chr7:70161800-70172400	Weak transcription	Right Atrium	heart
10	chr7:70161800-70174400	Weak transcription	HMEC	breast
11	chr7:70161800-70174600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:70161800-70174600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:70161800-70191200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:70162000-70167600	Weak transcription	Aorta	Aorta
15	chr7:70162000-70174600	Weak transcription	NHDF-Ad	bronchial
16	chr7:70162000-70174800	Weak transcription	Osteobl	bone
17	chr7:70162200-70167600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
19	chr7:70162400-70174800	Weak transcription	NHLF	lung
20	chr7:70162800-70167800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:70163200-70168000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:70163400-70174600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:70163400-70175000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:70163600-70168200	Enhancers	Brain Anterior Caudate	brain
25	chr7:70163800-70167800	Genic enhancers	Dnd41	blood
26	chr7:70164200-70173000	Enhancers	Fetal Brain Male	brain
27	chr7:70164800-70167600	Genic enhancers	Fetal Stomach	stomach
28	chr7:70164800-70174400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:70165000-70174800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:70165200-70169200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:70165200-70174200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:70165200-70176600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:70165400-70167600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
34	chr7:70165600-70178000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:70165800-70167600	Bivalent Enhancer	Brain Germinal Matrix	brain
36	chr7:70165800-70168400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:70166000-70167600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:70166000-70168000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:70166000-70170200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:70166000-70170800	Weak transcription	HSMM	muscle
41	chr7:70166000-70171600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:70166000-70175400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:70166200-70167600	Genic enhancers	Primary T cells from cord blood	blood
44	chr7:70166200-70168000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:70166200-70168600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:70166200-70169400	Weak transcription	Small Intestine	intestine
47	chr7:70166200-70171800	Weak transcription	Fetal Heart	heart
48	chr7:70166200-70171800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:70166200-70172400	Weak transcription	HSMMtube	muscle
50	chr7:70166200-70174400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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