Variant report

Variant	rs59242356
Chromosome Location	chr7:104626441-104626442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104626171..104628640-chr7:104635063..104636890,2	MCF-7	breast:
2	chr7:104584293..104587228-chr7:104624517..104626967,3	K562	blood:
3	chr7:104624371..104626552-chr7:104696883..104699213,2	K562	blood:
4	chr7:104622776..104625398-chr7:104626077..104628432,3	MCF-7	breast:
5	chr7:104583958..104587024-chr7:104622658..104627290,6	K562	blood:
6	chr7:104625024..104626547-chr7:104710166..104712101,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104622194-104631612	NONHSAT122589

No data

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2073550	1.00[EUR][1000 genomes]
rs2240456	1.00[EUR][1000 genomes]
rs2299296	1.00[EUR][1000 genomes]
rs2299300	1.00[EUR][1000 genomes]
rs2299301	1.00[EUR][1000 genomes]
rs2430481	1.00[EUR][1000 genomes]
rs3735378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56300169	1.00[EUR][1000 genomes]
rs56654846	1.00[EUR][1000 genomes]
rs56663357	0.97[ASN][1000 genomes]
rs56851478	1.00[EUR][1000 genomes]
rs57492989	1.00[EUR][1000 genomes]
rs58469240	1.00[EUR][1000 genomes]
rs58527692	1.00[EUR][1000 genomes]
rs59171738	0.87[ASN][1000 genomes]
rs59263503	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59290277	1.00[EUR][1000 genomes]
rs59494471	0.90[ASN][1000 genomes]
rs60808750	0.90[ASN][1000 genomes]
rs61383544	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv526422	chr7:104618318-104632980	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104626600	Weak transcription	Left Ventricle	heart
2	chr7:104625000-104626800	Weak transcription	Pancreas	Pancrea
3	chr7:104625000-104629400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:104625000-104629400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:104625000-104629400	Weak transcription	Esophagus	oesophagus
6	chr7:104625000-104629400	Weak transcription	Lung	lung
7	chr7:104625000-104629400	Weak transcription	Ovary	ovary
8	chr7:104625000-104629400	Weak transcription	Small Intestine	intestine
9	chr7:104625000-104631400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:104625000-104631400	Weak transcription	Spleen	Spleen
11	chr7:104625000-104633600	Weak transcription	Aorta	Aorta
12	chr7:104625000-104641200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:104625200-104626600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:104625200-104626800	Enhancers	Fetal Heart	heart
16	chr7:104625200-104627000	Enhancers	Brain Angular Gyrus	brain
17	chr7:104625200-104627000	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:104625200-104627000	Enhancers	Fetal Intestine Small	intestine
19	chr7:104625200-104627200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:104625200-104627200	Enhancers	Fetal Lung	lung
21	chr7:104625200-104627400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:104625200-104627400	Enhancers	Fetal Kidney	kidney
23	chr7:104625200-104627800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:104625200-104628000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:104625200-104628400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:104625200-104629400	Weak transcription	Fetal Stomach	stomach
27	chr7:104625200-104630600	Enhancers	Osteobl	bone
28	chr7:104625200-104631200	Enhancers	Liver	Liver
29	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:104625400-104626600	Enhancers	Adipose Nuclei	Adipose
31	chr7:104625400-104627200	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:104625400-104627400	Enhancers	Brain Substantia Nigra	brain
33	chr7:104625400-104627600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:104625400-104627800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:104625400-104627800	Enhancers	Brain Anterior Caudate	brain
36	chr7:104625400-104628000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:104625400-104628000	Enhancers	Colonic Mucosa	Colon
38	chr7:104625400-104629400	Weak transcription	Right Ventricle	heart
39	chr7:104625400-104629400	Weak transcription	Thymus	Thymus
40	chr7:104625400-104629400	Enhancers	NHLF	lung
41	chr7:104625400-104633200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
43	chr7:104625600-104626600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:104625600-104626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:104625600-104626600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr7:104625600-104626600	Enhancers	Hela-S3	cervix
47	chr7:104625600-104626800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr7:104625600-104626800	Weak transcription	Primary T cells from cord blood	blood
49	chr7:104625600-104626800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:104625600-104626800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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