Variant report

Variant	rs59691189
Chromosome Location	chr7:104842012-104842013
allele	A/G
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	chr7:104835386..104838119-chr7:104841515..104843730,2	K562	blood:
3	chr7:104841876..104843481-chr7:104848260..104849927,2	MCF-7	breast:
4	chr7:104824422..104827358-chr7:104839079..104842407,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10429247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1204079	1.00[EUR][1000 genomes]
rs1204081	1.00[EUR][1000 genomes]
rs1204082	1.00[EUR][1000 genomes]
rs12111884	1.00[EUR][1000 genomes]
rs12112114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2299302	1.00[EUR][1000 genomes]
rs28832590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55931372	1.00[EUR][1000 genomes]
rs56063525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56296263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56930622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57280586	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58306520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59417293	1.00[EUR][1000 genomes]
rs60188077	1.00[EUR][1000 genomes]
rs60294737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60766560	1.00[EUR][1000 genomes]
rs73404021	1.00[EUR][1000 genomes]
rs73715438	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715439	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715446	0.81[AFR][1000 genomes]
rs73715452	1.00[EUR][1000 genomes]
rs73715545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73717957	1.00[EUR][1000 genomes]
rs73717959	1.00[EUR][1000 genomes]
rs73717961	1.00[EUR][1000 genomes]
rs73717963	1.00[EUR][1000 genomes]
rs73718220	1.00[EUR][1000 genomes]
rs757957	1.00[EUR][1000 genomes]
rs9969144	1.00[AMR][1000 genomes];1.00[EUR][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:114 , 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	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
3	chr7:104822000-104858800	Weak transcription	Gastric	stomach
4	chr7:104823600-104848600	Strong transcription	Dnd41	blood
5	chr7:104827400-104843400	Weak transcription	Psoas Muscle	Psoas
6	chr7:104827400-104850400	Weak transcription	Aorta	Aorta
7	chr7:104828600-104851000	Weak transcription	Stomach Mucosa	stomach
8	chr7:104828800-104850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:104829800-104843400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:104830000-104842800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:104830000-104843000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:104830000-104843600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:104830600-104844800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:104830600-104850600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:104831200-104851000	Weak transcription	Pancreas	Pancrea
16	chr7:104832400-104843000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:104832600-104846200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:104833800-104850000	Weak transcription	Fetal Brain Female	brain
19	chr7:104834200-104846000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:104834200-104850000	Weak transcription	Brain Germinal Matrix	brain
21	chr7:104834600-104846800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:104834600-104851000	Weak transcription	Small Intestine	intestine
23	chr7:104835600-104845200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:104835800-104843400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:104836600-104846400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:104837400-104846200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:104837600-104844200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:104837800-104843200	Strong transcription	Primary B cells from cord blood	blood
29	chr7:104838000-104843600	Weak transcription	Lung	lung
30	chr7:104838000-104844200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:104838000-104849800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:104838400-104843800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr7:104838600-104845200	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:104838600-104849800	Weak transcription	Fetal Brain Male	brain
35	chr7:104838600-104850400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:104838800-104843400	Weak transcription	Fetal Stomach	stomach
37	chr7:104839000-104843400	Weak transcription	Colonic Mucosa	Colon
38	chr7:104839000-104843400	Weak transcription	Right Ventricle	heart
39	chr7:104839000-104845400	Weak transcription	Placenta	Placenta
40	chr7:104839000-104846800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:104839000-104849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:104839200-104842400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:104839200-104844000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:104839400-104843600	Weak transcription	Right Atrium	heart
45	chr7:104839400-104858400	Weak transcription	NHLF	lung
46	chr7:104839600-104842800	Weak transcription	HSMMtube	muscle
47	chr7:104839600-104844000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:104839600-104845600	Weak transcription	Osteobl	bone
49	chr7:104839600-104846200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:104839600-104846400	Weak transcription	NH-A	brain

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