Variant report

Variant	rs3735616
Chromosome Location	chr7:19737026-19737027
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19733366..19735226-chr7:19735376..19737263,2	K562	blood:
2	chr7:19727945..19730939-chr7:19734576..19737484,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17141796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2390154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58056591	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58354969	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60221291	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60873763	0.88[ASN][1000 genomes]
rs60983452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60986520	0.84[AMR][1000 genomes]
rs61052896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66483938	0.84[AMR][1000 genomes]
rs66857203	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67008311	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67320494	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67480144	0.84[AMR][1000 genomes]
rs67667438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946719	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73076839	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270117	0.84[AMR][1000 genomes]
rs73271905	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73271979	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73272001	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274010	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274011	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274017	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274019	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274022	0.88[ASN][1000 genomes]
rs73274023	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274029	0.85[ASN][1000 genomes]
rs73274032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274033	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274035	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73274039	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9690343	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv524807	chr7:19714156-19803925	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19729400-19739800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:19729800-19745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:19730400-19738000	Weak transcription	Left Ventricle	heart
4	chr7:19730400-19747400	Weak transcription	HSMMtube	muscle
5	chr7:19731000-19746000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:19731600-19746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:19732200-19743400	Weak transcription	Esophagus	oesophagus
8	chr7:19732400-19737600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:19732400-19737600	Weak transcription	Placenta	Placenta
10	chr7:19732400-19745400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:19732600-19747000	Weak transcription	Pancreas	Pancrea
12	chr7:19733000-19745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:19733000-19747400	Weak transcription	Spleen	Spleen
14	chr7:19733200-19737600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:19733800-19747000	Weak transcription	Osteobl	bone
16	chr7:19733800-19747400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:19734000-19737400	Weak transcription	HUVEC	blood vessel
18	chr7:19734000-19739600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:19734000-19745600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:19734000-19746000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:19734000-19746600	Weak transcription	Fetal Lung	lung
22	chr7:19734200-19737600	Weak transcription	Brain Germinal Matrix	brain
23	chr7:19734200-19739400	Weak transcription	NHDF-Ad	bronchial
24	chr7:19734200-19740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:19734200-19746000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:19734200-19746800	Weak transcription	Psoas Muscle	Psoas
27	chr7:19734400-19747000	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:19734400-19747400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr7:19734600-19746400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:19734800-19747000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:19734800-19748000	Weak transcription	Lung	lung
32	chr7:19735000-19740000	Strong transcription	Dnd41	blood
33	chr7:19735000-19741000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:19735200-19738600	Strong transcription	Primary T cells from cord blood	blood
35	chr7:19735200-19741200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:19735400-19737200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:19735400-19737200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:19735400-19737400	Strong transcription	Ovary	ovary
39	chr7:19735400-19737600	Weak transcription	Colon Smooth Muscle	Colon
40	chr7:19735400-19738600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr7:19735400-19739200	Strong transcription	HSMM	muscle
42	chr7:19735400-19739400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:19735400-19740200	Strong transcription	Adipose Nuclei	Adipose
44	chr7:19735400-19741800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:19735400-19742400	Weak transcription	Fetal Kidney	kidney
46	chr7:19735400-19744600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:19735400-19746000	Weak transcription	Fetal Brain Female	brain
48	chr7:19735400-19746400	Weak transcription	HMEC	breast
49	chr7:19735400-19747000	Weak transcription	Right Ventricle	heart
50	chr7:19735400-19747200	Weak transcription	Fetal Heart	heart

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