Variant report

Variant	rs58959327
Chromosome Location	chr7:104847138-104847139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104841881..104843382-chr7:104845668..104848186,2	MCF-7	breast:
2	chr7:104845667..104848207-chr7:104850068..104852125,2	K562	blood:
3	chr7:104836648..104838790-chr7:104846781..104848427,3	K562	blood:
4	chr7:104845823..104848635-chr7:104857389..104859177,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs58180831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60968925	1.00[AMR][1000 genomes]
rs61334733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405817	1.00[AMR][1000 genomes]
rs73405824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405840	1.00[AMR][1000 genomes]
rs73405842	1.00[AMR][1000 genomes]
rs73405879	1.00[AMR][1000 genomes]
rs73407822	1.00[AMR][1000 genomes]
rs73407843	1.00[AMR][1000 genomes]
rs73407877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407879	1.00[AMR][1000 genomes]
rs73409846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409856	1.00[AMR][1000 genomes]
rs73409858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' 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
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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 target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
2	chr7:104822000-104858800	Weak transcription	Gastric	stomach
3	chr7:104823600-104848600	Strong transcription	Dnd41	blood
4	chr7:104827400-104850400	Weak transcription	Aorta	Aorta
5	chr7:104828600-104851000	Weak transcription	Stomach Mucosa	stomach
6	chr7:104828800-104850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:104830600-104850600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:104831200-104851000	Weak transcription	Pancreas	Pancrea
9	chr7:104833800-104850000	Weak transcription	Fetal Brain Female	brain
10	chr7:104834200-104850000	Weak transcription	Brain Germinal Matrix	brain
11	chr7:104834600-104851000	Weak transcription	Small Intestine	intestine
12	chr7:104838000-104849800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:104838600-104849800	Weak transcription	Fetal Brain Male	brain
14	chr7:104838600-104850400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:104839000-104849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:104839400-104858400	Weak transcription	NHLF	lung
17	chr7:104839600-104850600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:104839600-104857200	Weak transcription	A549	lung
19	chr7:104840000-104850000	Weak transcription	HSMM	muscle
20	chr7:104840600-104849800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:104841200-104853400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:104841600-104851200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:104842000-104850400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:104842000-104851000	Weak transcription	Ovary	ovary
25	chr7:104842000-104851000	Weak transcription	HUVEC	blood vessel
26	chr7:104842200-104847800	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:104842200-104865400	Weak transcription	K562	blood
28	chr7:104842400-104847400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:104842400-104847800	Enhancers	Brain Angular Gyrus	brain
30	chr7:104842400-104850000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:104842400-104857200	Weak transcription	HMEC	breast
32	chr7:104842800-104847200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:104842800-104850400	Weak transcription	Fetal Lung	lung
34	chr7:104842800-104851200	Weak transcription	Esophagus	oesophagus
35	chr7:104843200-104863400	Weak transcription	HepG2	liver
36	chr7:104843600-104851200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:104843800-104847200	Enhancers	Brain Hippocampus Middle	brain
38	chr7:104843800-104847600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:104843800-104847800	Enhancers	Brain Substantia Nigra	brain
40	chr7:104843800-104848000	Enhancers	Brain Anterior Caudate	brain
41	chr7:104843800-104851000	Weak transcription	Psoas Muscle	Psoas
42	chr7:104843800-104851000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:104843800-104851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:104843800-104851200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:104843800-104851200	Weak transcription	Right Ventricle	heart
46	chr7:104843800-104851200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:104843800-104859600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:104844000-104849800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:104844000-104850800	Weak transcription	Liver	Liver
50	chr7:104844000-104863200	Weak transcription	Fetal Intestine Large	intestine

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