Variant report

Variant	rs2348664
Chromosome Location	chr7:48123695-48123696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:48123072..48126453-chr7:48126684..48130333,8	K562	blood:
2	chr7:48121862..48125599-chr7:48127472..48129866,4	MCF-7	breast:
3	chr7:48017808..48020027-chr7:48122516..48125165,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction
ENSG00000183696	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11975785	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1879832	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2056472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2230761	1.00[EUR][1000 genomes]
rs58352699	1.00[EUR][1000 genomes]
rs58646969	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58725335	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951116	1.00[EUR][1000 genomes]
rs73337874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337876	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73694335	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48110000-48124200	Weak transcription	Aorta	Aorta
2	chr7:48111200-48127600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:48119800-48124000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:48119800-48124000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:48120200-48124200	Enhancers	NHEK	skin
6	chr7:48121600-48124400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:48121600-48125400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:48122000-48127800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:48122000-48128000	Enhancers	HMEC	breast
10	chr7:48122200-48124400	Enhancers	Osteobl	bone
11	chr7:48122200-48127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:48122200-48127800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:48122200-48128000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:48122400-48124400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:48122400-48124800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:48122400-48124800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:48122400-48126400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:48122400-48127600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:48122400-48128000	Enhancers	NHLF	lung
20	chr7:48122400-48128200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:48122600-48124800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:48122600-48126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:48122600-48126800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr7:48122600-48128000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr7:48122600-48128000	Enhancers	NHDF-Ad	bronchial
26	chr7:48122800-48124400	Enhancers	A549	lung
27	chr7:48122800-48125200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:48122800-48125200	Enhancers	GM12878-XiMat	blood
29	chr7:48122800-48126600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:48122800-48128000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr7:48122800-48128000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:48123000-48124400	Enhancers	HepG2	liver
33	chr7:48123000-48127800	Enhancers	HUVEC	blood vessel
34	chr7:48123200-48124200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:48123200-48124200	Weak transcription	Esophagus	oesophagus
36	chr7:48123200-48124200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:48123200-48124200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:48123200-48124400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:48123200-48124400	Weak transcription	Colonic Mucosa	Colon
40	chr7:48123200-48124400	Weak transcription	Left Ventricle	heart
41	chr7:48123200-48124400	Weak transcription	Ovary	ovary
42	chr7:48123200-48124400	Enhancers	Hela-S3	cervix
43	chr7:48123200-48125600	Weak transcription	Lung	lung
44	chr7:48123200-48126800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:48123200-48127600	Weak transcription	Right Atrium	heart
46	chr7:48123200-48128000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:48123400-48123800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:48123400-48123800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:48123400-48124400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:48123400-48124400	Weak transcription	Small Intestine	intestine

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