Variant report

Variant	rs11982193
Chromosome Location	chr7:97882561-97882562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:97882325-97882654	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:97881770..97884305-chr7:97885648..97888001,2	K562	blood:
2	chr7:97880638..97884180-chr7:98029742..98031678,3	MCF-7	breast:
3	chr7:97880609..97882891-chr7:97909884..97913133,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRI3-2	chr7:97881470-97887682	NONHSAT122186

No data

Variant related genes	Relation type
TECPR1	TF binding region
ENSG00000164713	Chromatin interaction
ENSG00000006453	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17169479	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56694862	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58477839	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58699591	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59597713	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73709460	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7777991	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
8	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats 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	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1800947	chr7:97857675-97889672	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97880000-97882800	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr7:97880200-97882600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:97880200-97882600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:97880400-97882600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:97880400-97882600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:97880400-97882800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:97880600-97882600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:97880600-97882800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:97880600-97882800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr7:97880800-97882600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:97880800-97882600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:97881000-97882600	Active TSS	Fetal Brain Female	brain
13	chr7:97881000-97882800	Active TSS	NHLF	lung
14	chr7:97881000-97883000	Active TSS	HSMM	muscle
15	chr7:97881200-97882600	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:97881400-97882600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:97881600-97882600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:97881800-97882600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr7:97881800-97883000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr7:97881800-97883000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr7:97881800-97883000	Flanking Active TSS	Dnd41	blood
22	chr7:97882000-97882600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:97882000-97882600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:97882000-97882600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:97882000-97882600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:97882000-97882600	Flanking Active TSS	Liver	Liver
27	chr7:97882000-97882600	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr7:97882000-97882800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:97882000-97882800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr7:97882000-97882800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:97882000-97882800	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr7:97882000-97882800	Flanking Active TSS	NHEK	skin
33	chr7:97882000-97883000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:97882000-97883000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:97882000-97883000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:97882000-97883000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:97882000-97883000	Enhancers	Spleen	Spleen
38	chr7:97882000-97883000	Flanking Active TSS	Hela-S3	cervix
39	chr7:97882200-97882600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:97882200-97882600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:97882200-97882600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr7:97882200-97882600	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr7:97882200-97882600	Flanking Active TSS	Gastric	stomach
44	chr7:97882200-97882600	Flanking Active TSS	Pancreas	Pancrea
45	chr7:97882200-97882600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:97882200-97882600	Active TSS	HepG2	liver
47	chr7:97882200-97882800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:97882200-97882800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:97882200-97882800	Flanking Active TSS	Colonic Mucosa	Colon
50	chr7:97882200-97882800	Weak transcription	Right Atrium	heart

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