Variant report

Variant	rs2394825
Chromosome Location	chr7:97765622-97765623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97764283..97766724-chr7:97772690..97775422,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17434500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17523905	0.85[AMR][1000 genomes]
rs17614657	0.85[AMR][1000 genomes]
rs45488394	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56123416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97737800-97767000	Weak transcription	Fetal Stomach	stomach
2	chr7:97741200-97767600	Weak transcription	Fetal Brain Male	brain
3	chr7:97745600-97781600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:97746400-97772600	Weak transcription	Fetal Kidney	kidney
5	chr7:97746600-97767000	Weak transcription	Esophagus	oesophagus
6	chr7:97751400-97767600	Weak transcription	Brain Germinal Matrix	brain
7	chr7:97752600-97780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:97755800-97767400	Weak transcription	Fetal Brain Female	brain
9	chr7:97756200-97767000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:97758600-97766800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:97760400-97766200	Enhancers	Stomach Mucosa	stomach
12	chr7:97760600-97765800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:97760600-97772000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:97761000-97767400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:97761200-97767000	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:97761400-97767200	Weak transcription	Fetal Lung	lung
17	chr7:97761400-97781000	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:97761600-97766200	Enhancers	Fetal Intestine Large	intestine
19	chr7:97761600-97767000	Weak transcription	Right Ventricle	heart
20	chr7:97761600-97767200	Enhancers	Liver	Liver
21	chr7:97761600-97767400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:97762200-97766000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:97762400-97766000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:97762600-97793000	Weak transcription	Fetal Heart	heart
25	chr7:97763000-97766000	Enhancers	Small Intestine	intestine
26	chr7:97763200-97766800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:97763200-97767000	Weak transcription	Ovary	ovary
28	chr7:97763200-97770800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:97763200-97771200	Weak transcription	Colonic Mucosa	Colon
30	chr7:97763200-97792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:97763400-97765800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:97763400-97766200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr7:97763400-97767000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:97763400-97767000	Weak transcription	Aorta	Aorta
35	chr7:97763400-97767000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:97763400-97767000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:97763400-97767200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:97763400-97767200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:97763400-97767200	Weak transcription	Placenta	Placenta
40	chr7:97763400-97772000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:97763400-97775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:97763400-97801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:97763400-97821000	Weak transcription	NHLF	lung
44	chr7:97763600-97766200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:97763600-97766400	Enhancers	A549	lung
46	chr7:97763600-97766400	Enhancers	Hela-S3	cervix
47	chr7:97763600-97766600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:97763600-97767000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:97763600-97767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:97763600-97767400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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