Variant report

Variant	rs1640237
Chromosome Location	chr7:5641764-5641765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:5641752-5641906	K562	blood:	n/a	n/a
2	POLR2A	chr7:5641005-5644195	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:

Variant related genes	Relation type
FSCN1	TF binding region
ENSG00000263900	Chromatin interaction
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1640236	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1640238	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1640240	0.92[ASN][1000 genomes]
rs1725182	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2966446	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS 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 miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers 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 miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5635800-5642800	Weak transcription	Aorta	Aorta
2	chr7:5636200-5642600	Weak transcription	HepG2	liver
3	chr7:5636200-5662000	Weak transcription	Fetal Kidney	kidney
4	chr7:5636400-5642600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:5636600-5643400	Weak transcription	Pancreas	Pancrea
6	chr7:5636600-5661400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:5636800-5643200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:5636800-5661200	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:5638400-5642800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:5638400-5648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:5638400-5659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:5638600-5642000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:5638600-5643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:5638800-5642200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:5638800-5642600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:5638800-5643000	Weak transcription	Fetal Lung	lung
17	chr7:5638800-5643000	Weak transcription	Right Ventricle	heart
18	chr7:5638800-5643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:5638800-5644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:5638800-5661200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
22	chr7:5639000-5642600	Weak transcription	Lung	lung
23	chr7:5639000-5642800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:5639000-5642800	Weak transcription	Esophagus	oesophagus
25	chr7:5639000-5643200	Weak transcription	Gastric	stomach
26	chr7:5639000-5643200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:5639000-5655200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:5639000-5661200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:5639200-5641800	Weak transcription	NHLF	lung
30	chr7:5639200-5642200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:5639200-5642200	Weak transcription	HSMM	muscle
32	chr7:5639200-5642200	Weak transcription	HUVEC	blood vessel
33	chr7:5639200-5642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:5639200-5642600	Weak transcription	Fetal Intestine Large	intestine
35	chr7:5639200-5642600	Weak transcription	NHDF-Ad	bronchial
36	chr7:5639200-5642800	Weak transcription	Colonic Mucosa	Colon
37	chr7:5639200-5642800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:5639200-5643000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:5639200-5643000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:5639200-5643000	Weak transcription	HSMMtube	muscle
41	chr7:5639200-5647600	Weak transcription	Stomach Mucosa	stomach
42	chr7:5639400-5641800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:5639400-5642000	Weak transcription	Hela-S3	cervix
44	chr7:5639400-5642600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:5639400-5642800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:5639400-5642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:5639400-5642800	Weak transcription	Spleen	Spleen
48	chr7:5639600-5641800	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:5639600-5642000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:5639600-5642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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