Variant report

Variant	rs28588491
Chromosome Location	chr7:104624824-104624825
allele	A/C/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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104621940..104625883-chr7:105161426..105164380,3	K562	blood:
2	chr7:104622776..104625398-chr7:104626077..104628432,3	MCF-7	breast:
3	chr7:104623725..104625660-chr7:104712906..104715698,2	K562	blood:
4	chr5:43483646..43484221-chr7:104624104..104625102,2	Hela-S3	cervix:
5	chr7:104584293..104587228-chr7:104624517..104626967,3	K562	blood:
6	chr7:104622467..104625447-chr7:104737969..104740560,2	K562	blood:
7	chr7:104624371..104626552-chr7:104696883..104699213,2	K562	blood:
8	chr7:104621807..104625592-chr7:104704805..104708118,3	K562	blood:
9	chr7:104622578..104624992-chr7:104770138..104773284,3	K562	blood:
10	chr7:104583958..104587024-chr7:104622658..104627290,6	K562	blood:
11	chr7:104562700..104564901-chr7:104622729..104625320,2	MCF-7	breast:
12	chr7:104624160..104625765-chr7:104714198..104715980,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104622194-104631612	NONHSAT122589
2	lnc-SRPK2-1	chr7:104622196-104625367	NONHSAT122590

No data

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12111884	1.00[EUR][1000 genomes]
rs2299302	1.00[EUR][1000 genomes]
rs28832590	1.00[EUR][1000 genomes]
rs4129840	1.00[EUR][1000 genomes]
rs4481520	1.00[EUR][1000 genomes]
rs55931372	1.00[EUR][1000 genomes]
rs59417293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60188077	1.00[EUR][1000 genomes]
rs60766560	1.00[EUR][1000 genomes]
rs73404021	1.00[EUR][1000 genomes]
rs73713438	1.00[EUR][1000 genomes]
rs73715438	1.00[EUR][1000 genomes]
rs73715439	1.00[EUR][1000 genomes]
rs73716467	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716468	0.83[AFR][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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs757957	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	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104623400-104625000	Active TSS	Aorta	Aorta
2	chr7:104623400-104625400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr7:104623400-104625400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:104623600-104625000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:104623600-104625000	Active TSS	Colonic Mucosa	Colon
6	chr7:104623600-104625000	Active TSS	Lung	lung
7	chr7:104623600-104625000	Active TSS	Ovary	ovary
8	chr7:104623600-104625000	Active TSS	A549	lung
9	chr7:104623600-104625200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:104623600-104625200	Active TSS	Fetal Muscle Trunk	muscle
11	chr7:104623600-104625400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:104623600-104625800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:104623800-104625000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:104623800-104625000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:104623800-104625000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:104623800-104625000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:104623800-104625000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:104623800-104625000	Active TSS	Brain Anterior Caudate	brain
19	chr7:104623800-104625000	Active TSS	Brain Hippocampus Middle	brain
20	chr7:104623800-104625000	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:104623800-104625000	Active TSS	Fetal Heart	heart
22	chr7:104623800-104625000	Active TSS	Left Ventricle	heart
23	chr7:104623800-104625000	Active TSS	Small Intestine	intestine
24	chr7:104623800-104625200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:104623800-104625200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr7:104623800-104625200	Active TSS	Fetal Brain Female	brain
27	chr7:104623800-104625200	Active TSS	Psoas Muscle	Psoas
28	chr7:104623800-104625200	Active TSS	Stomach Smooth Muscle	stomach
29	chr7:104623800-104625200	Active TSS	GM12878-XiMat	blood
30	chr7:104623800-104625400	Active TSS	Right Ventricle	heart
31	chr7:104623800-104625400	Active TSS	HSMM	muscle
32	chr7:104623800-104625600	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:104623800-104625600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:104623800-104625800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:104624000-104625000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:104624000-104625000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:104624000-104625000	Active TSS	Brain Angular Gyrus	brain
38	chr7:104624000-104625000	Active TSS	Brain Substantia Nigra	brain
39	chr7:104624000-104625000	Active TSS	Fetal Brain Male	brain
40	chr7:104624000-104625000	Active TSS	Fetal Kidney	kidney
41	chr7:104624000-104625000	Active TSS	Spleen	Spleen
42	chr7:104624000-104625000	Active TSS	Hela-S3	cervix
43	chr7:104624000-104625000	Active TSS	K562	blood
44	chr7:104624000-104625000	Active TSS	NHDF-Ad	bronchial
45	chr7:104624000-104625200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr7:104624000-104625200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:104624000-104625200	Active TSS	HepG2	liver
48	chr7:104624000-104625400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:104624000-104625400	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:104624000-104625400	Active TSS	Skeletal Muscle Female	skeletal muscle

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