Variant report

Variant	rs6972411
Chromosome Location	chr7:17850410-17850411
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs56048696	1.00[AMR][1000 genomes]
rs57998633	1.00[AMR][1000 genomes]
rs58250472	1.00[AMR][1000 genomes]
rs61347461	1.00[AMR][1000 genomes]
rs73313722	1.00[AMR][1000 genomes]
rs73313728	1.00[AMR][1000 genomes]
rs73313732	1.00[AMR][1000 genomes]
rs73313739	1.00[AMR][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	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised 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	23 gene(s)	inside rSNPs	diseases
6	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	esv1802979	chr7:17816528-17908546	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812400-17852200	Weak transcription	Esophagus	oesophagus
2	chr7:17812600-17887600	Weak transcription	Gastric	stomach
3	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
4	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
5	chr7:17822000-17852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:17823200-17854400	Weak transcription	Lung	lung
7	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:17824800-17861800	Weak transcription	Fetal Heart	heart
9	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
10	chr7:17826400-17852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:17826400-17853200	Weak transcription	Aorta	Aorta
12	chr7:17826400-17864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
14	chr7:17832000-17862600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
16	chr7:17834000-17852400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:17834000-17853000	Weak transcription	Hela-S3	cervix
18	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart
19	chr7:17834200-17879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:17834400-17852200	Weak transcription	Brain Germinal Matrix	brain
21	chr7:17834800-17888800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:17837800-17852000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:17837800-17855400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:17838000-17852200	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:17838800-17887600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:17839200-17852200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:17841000-17861000	Weak transcription	NHDF-Ad	bronchial
29	chr7:17841000-17862000	Weak transcription	HUVEC	blood vessel
30	chr7:17841200-17851600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:17841200-17883800	Weak transcription	HMEC	breast
32	chr7:17841200-17902600	Weak transcription	Brain Anterior Caudate	brain
33	chr7:17841400-17852400	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:17841400-17862200	Weak transcription	NH-A	brain
35	chr7:17841400-17862200	Weak transcription	NHEK	skin
36	chr7:17841400-17862800	Weak transcription	Stomach Mucosa	stomach
37	chr7:17841600-17879400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:17841800-17852000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:17842000-17852000	Weak transcription	Left Ventricle	heart
40	chr7:17842000-17853200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:17842400-17853000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:17843200-17852200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:17843200-17853000	Weak transcription	Placenta	Placenta
44	chr7:17843200-17881800	Weak transcription	A549	lung
45	chr7:17843400-17851400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:17843400-17851400	Weak transcription	Fetal Lung	lung
47	chr7:17843400-17851800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:17843400-17852000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:17843400-17852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:17843400-17852400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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