Variant report

Variant	rs73716466
Chromosome Location	chr7:104624622-104624623
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:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104621940..104625883-chr7:105161426..105164380,3	K562	blood:
2	chr7:104622725..104624630-chr7:104727486..104729559,2	K562	blood:
3	chr7:104622776..104625398-chr7:104626077..104628432,3	MCF-7	breast:
4	chr12:52452820..52453752-chr7:104623959..104624715,2	Hela-S3	cervix:
5	chr7:104622804..104624627-chr7:105113661..105116251,2	K562	blood:
6	chr7:104623725..104625660-chr7:104712906..104715698,2	K562	blood:
7	chr5:43483646..43484221-chr7:104624104..104625102,2	Hela-S3	cervix:
8	chr7:104584293..104587228-chr7:104624517..104626967,3	K562	blood:
9	chr7:104622467..104625447-chr7:104737969..104740560,2	K562	blood:
10	chr7:104624371..104626552-chr7:104696883..104699213,2	K562	blood:
11	chr7:104621844..104624679-chr7:104701034..104702609,2	K562	blood:
12	chr7:104621807..104625592-chr7:104704805..104708118,3	K562	blood:
13	chr7:104563298..104563957-chr7:104624128..104624673,3	K562	blood:
14	chr7:104622578..104624992-chr7:104770138..104773284,3	K562	blood:
15	chr7:104583958..104587024-chr7:104622658..104627290,6	K562	blood:
16	chr7:104562700..104564901-chr7:104622729..104625320,2	MCF-7	breast:
17	chr7:104624160..104625765-chr7:104714198..104715980,2	K562	blood:

(count:3 , 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
3	lnc-SRPK2-1	chr7:104623843-104624643	NONHSAT122593

No data

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000259884	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59393468	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417674	1.00[ASN][1000 genomes]
rs73419791	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421708	0.86[AFR][1000 genomes];1.00[AMR][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	chr7:104623600-104624800	Active TSS	Esophagus	oesophagus
5	chr7:104623600-104625000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:104623600-104625000	Active TSS	Colonic Mucosa	Colon
7	chr7:104623600-104625000	Active TSS	Lung	lung
8	chr7:104623600-104625000	Active TSS	Ovary	ovary
9	chr7:104623600-104625000	Active TSS	A549	lung
10	chr7:104623600-104625200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:104623600-104625200	Active TSS	Fetal Muscle Trunk	muscle
12	chr7:104623600-104625400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:104623600-104625800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:104623800-104624800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:104623800-104624800	Active TSS	Brain Germinal Matrix	brain
16	chr7:104623800-104624800	Active TSS	Colon Smooth Muscle	Colon
17	chr7:104623800-104624800	Active TSS	Fetal Muscle Leg	muscle
18	chr7:104623800-104624800	Active TSS	Fetal Stomach	stomach
19	chr7:104623800-104624800	Active TSS	Pancreas	Pancrea
20	chr7:104623800-104625000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:104623800-104625000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:104623800-104625000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:104623800-104625000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:104623800-104625000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:104623800-104625000	Active TSS	Brain Anterior Caudate	brain
26	chr7:104623800-104625000	Active TSS	Brain Hippocampus Middle	brain
27	chr7:104623800-104625000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:104623800-104625000	Active TSS	Fetal Heart	heart
29	chr7:104623800-104625000	Active TSS	Left Ventricle	heart
30	chr7:104623800-104625000	Active TSS	Small Intestine	intestine
31	chr7:104623800-104625200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:104623800-104625200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:104623800-104625200	Active TSS	Fetal Brain Female	brain
34	chr7:104623800-104625200	Active TSS	Psoas Muscle	Psoas
35	chr7:104623800-104625200	Active TSS	Stomach Smooth Muscle	stomach
36	chr7:104623800-104625200	Active TSS	GM12878-XiMat	blood
37	chr7:104623800-104625400	Active TSS	Right Ventricle	heart
38	chr7:104623800-104625400	Active TSS	HSMM	muscle
39	chr7:104623800-104625600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:104623800-104625600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:104623800-104625800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr7:104624000-104624800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:104624000-104624800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:104624000-104624800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:104624000-104624800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:104624000-104624800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:104624000-104624800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr7:104624000-104624800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr7:104624000-104624800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:104624000-104624800	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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