Variant report

Variant	rs59003138
Chromosome Location	chr7:8129153-8129154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:8008014..8012241-chr7:8127326..8131877,4	MCF-7	breast:
2	chr7:7960248..7962002-chr7:8129033..8131831,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs60275081	1.00[EUR][1000 genomes]
rs6463757	1.00[EUR][1000 genomes]
rs6951578	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6956039	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6962721	1.00[EUR][1000 genomes]
rs6969971	1.00[EUR][1000 genomes]
rs73242019	1.00[EUR][1000 genomes]
rs73242021	1.00[EUR][1000 genomes]
rs73242049	1.00[EUR][1000 genomes]
rs73244303	1.00[EUR][1000 genomes]
rs73674754	1.00[EUR][1000 genomes]
rs7792118	1.00[EUR][1000 genomes]
rs7797521	1.00[EUR][1000 genomes]
rs7798132	1.00[EUR][1000 genomes]
rs7799954	1.00[EUR][1000 genomes]
rs7800279	1.00[EUR][1000 genomes]
rs7811561	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers 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	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
5	esv1009766	chr7:8106112-8134286	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
2	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:8095400-8129600	Weak transcription	Gastric	stomach
4	chr7:8096000-8151600	Weak transcription	Spleen	Spleen
5	chr7:8102800-8130000	Weak transcription	Fetal Lung	lung
6	chr7:8103000-8135400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:8103200-8131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:8109000-8131800	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:8109000-8132800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:8109200-8130400	Weak transcription	Brain Anterior Caudate	brain
11	chr7:8109200-8133400	Weak transcription	Fetal Intestine Small	intestine
12	chr7:8109200-8145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:8115400-8130400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:8123200-8130800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:8123400-8132000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:8123600-8131800	Weak transcription	HMEC	breast
17	chr7:8123800-8129400	Strong transcription	GM12878-XiMat	blood
18	chr7:8123800-8132200	Strong transcription	Primary B cells from cord blood	blood
19	chr7:8124200-8129200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:8124200-8130400	Strong transcription	Fetal Thymus	thymus
21	chr7:8124400-8129400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:8124800-8130200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:8125000-8130000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:8125000-8136400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:8125200-8132000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:8125400-8131400	Weak transcription	NH-A	brain
27	chr7:8125400-8132000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:8125400-8136800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:8126000-8133400	Weak transcription	Hela-S3	cervix
30	chr7:8126200-8133000	Weak transcription	Liver	Liver
31	chr7:8126200-8135200	Weak transcription	Fetal Stomach	stomach
32	chr7:8126200-8137200	Weak transcription	Left Ventricle	heart
33	chr7:8126400-8130200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:8126400-8131800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:8126400-8133800	Weak transcription	Fetal Intestine Large	intestine
36	chr7:8126400-8133800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:8126400-8134800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:8126400-8135000	Weak transcription	Thymus	Thymus
39	chr7:8126400-8135400	Weak transcription	Fetal Heart	heart
40	chr7:8126600-8131200	Weak transcription	Placenta	Placenta
41	chr7:8126600-8132200	Weak transcription	Adipose Nuclei	Adipose
42	chr7:8127000-8130200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:8127000-8130600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:8127000-8132600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:8127000-8138000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:8127000-8138200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:8127200-8131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:8127200-8132000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:8127200-8132400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:8127200-8134200	Weak transcription	Muscle Satellite Cultured Cells	--

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