Variant report

Variant	rs1568644
Chromosome Location	chr7:40151134-40151135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10046564	1.00[CHB][hapmap]
rs10228596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231184	1.00[ASN][1000 genomes]
rs10232399	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13226828	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239106	1.00[CHB][hapmap]
rs13310449	1.00[CHB][hapmap]
rs17434388	1.00[CHB][hapmap]
rs17496677	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140254	1.00[CHB][hapmap]
rs2159487	0.85[EUR][1000 genomes]
rs2329611	1.00[CHB][hapmap]
rs28482038	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758695	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773382	1.00[CHB][hapmap]
rs9655036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9655407	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	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv1024735	chr7:40149227-40203356	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40134600-40151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:40134600-40151600	Weak transcription	Gastric	stomach
3	chr7:40134600-40159600	Weak transcription	Left Ventricle	heart
4	chr7:40134600-40161800	Weak transcription	Pancreas	Pancrea
5	chr7:40134600-40171800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:40134600-40173200	Weak transcription	Lung	lung
7	chr7:40134800-40155800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:40134800-40166800	Weak transcription	Fetal Stomach	stomach
9	chr7:40135000-40152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:40135000-40157000	Weak transcription	HSMMtube	muscle
11	chr7:40135000-40166800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:40135000-40172800	Weak transcription	Fetal Kidney	kidney
13	chr7:40135200-40153200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:40135200-40153800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:40135200-40171000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:40135200-40171400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:40135600-40152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:40135600-40173000	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:40135800-40154400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:40136000-40172200	Weak transcription	Osteobl	bone
21	chr7:40136200-40171800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:40136600-40168200	Weak transcription	Primary B cells from cord blood	blood
23	chr7:40136600-40173200	Weak transcription	Placenta	Placenta
24	chr7:40137000-40166800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:40137400-40172000	Weak transcription	Fetal Lung	lung
26	chr7:40137600-40151800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:40137600-40151800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:40137600-40170600	Weak transcription	Dnd41	blood
29	chr7:40137600-40171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:40137600-40172200	Weak transcription	A549	lung
31	chr7:40137800-40166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:40137800-40170200	Weak transcription	HSMM	muscle
33	chr7:40137800-40171800	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:40138000-40159800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:40139400-40160200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:40142800-40152000	Weak transcription	Fetal Intestine Small	intestine
37	chr7:40147000-40157000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:40147200-40152000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:40147400-40151800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:40147400-40161800	Weak transcription	Fetal Intestine Large	intestine
41	chr7:40148400-40169400	Weak transcription	Primary T cells from cord blood	blood
42	chr7:40150000-40162800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:40151000-40151200	Enhancers	HUVEC	blood vessel
44	chr7:40151000-40152000	Weak transcription	Brain Inferior Temporal Lobe	brain

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