Variant report

Variant	rs28674483
Chromosome Location	chr7:7635755-7635756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7633919..7636130-chr7:8008311..8010496,2	MCF-7	breast:
2	chr7:7606627..7608636-chr7:7635277..7637792,2	K562	blood:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000233108	Chromatin interaction

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

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

rs_ID	r²[population]
rs17168809	0.87[AMR][1000 genomes]
rs58522484	0.85[AMR][1000 genomes]
rs73340646	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73340652	0.85[AMR][1000 genomes]
rs73349832	0.85[AMR][1000 genomes]
rs73349849	0.85[AMR][1000 genomes]
rs73349866	0.87[AMR][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	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
3	chr7:7607400-7648200	Weak transcription	Lung	lung
4	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:7608400-7648600	Weak transcription	NH-A	brain
8	chr7:7608800-7635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
10	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
11	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:7609600-7641000	Weak transcription	Spleen	Spleen
15	chr7:7609600-7642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
17	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
20	chr7:7609800-7635800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:7609800-7648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
23	chr7:7610400-7640800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:7610600-7639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:7610600-7648200	Weak transcription	Pancreas	Pancrea
26	chr7:7610600-7654400	Weak transcription	Gastric	stomach
27	chr7:7611200-7652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:7613000-7636000	Weak transcription	Left Ventricle	heart
29	chr7:7613000-7646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:7613200-7635800	Weak transcription	Ovary	ovary
31	chr7:7613200-7637600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:7613200-7637800	Weak transcription	NHDF-Ad	bronchial
33	chr7:7613200-7638600	Weak transcription	Fetal Kidney	kidney
34	chr7:7613200-7639400	Weak transcription	Fetal Brain Female	brain
35	chr7:7613200-7639800	Weak transcription	HSMMtube	muscle
36	chr7:7613400-7636000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:7613400-7639000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:7613400-7639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:7614000-7648600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:7614400-7640400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr7:7617400-7649200	Weak transcription	Psoas Muscle	Psoas
42	chr7:7617800-7639200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:7618000-7636600	Weak transcription	Thymus	Thymus
44	chr7:7621400-7635800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:7621400-7636000	Weak transcription	Fetal Intestine Large	intestine
46	chr7:7621600-7635800	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:7621600-7636400	Weak transcription	Colonic Mucosa	Colon
48	chr7:7621600-7636400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:7621600-7637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:7621600-7639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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