Variant report

Variant	rs4292617
Chromosome Location	chr7:98690366-98690367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98688775..98691323-chr7:98706983..98709167,2	MCF-7	breast:
2	chr7:98689517..98691290-chr7:98692165..98693720,2	MCF-7	breast:
3	chr7:98689928..98692468-chr7:98692672..98695703,4	K562	blood:
4	chr7:98685529..98691307-chr7:98694168..98698506,8	K562	blood:
5	chr7:98689157..98692121-chr7:98696694..98698453,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10231389	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1115930	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11770956	0.83[EUR][1000 genomes]
rs12534243	1.00[AMR][1000 genomes]
rs12705023	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13237374	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2176021	0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs28760348	1.00[EUR][1000 genomes]
rs4510778	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4604368	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955273	0.83[AFR][1000 genomes]
rs6956482	1.00[EUR][1000 genomes]
rs6975671	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98653000-98690800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:98676600-98702200	Weak transcription	Brain Germinal Matrix	brain
3	chr7:98677000-98693400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:98677000-98693400	Weak transcription	Aorta	Aorta
5	chr7:98677000-98693600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:98677000-98694800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:98677000-98696200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:98677000-98696200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:98677000-98700000	Weak transcription	HSMM	muscle
10	chr7:98677200-98692000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:98677200-98693400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:98677200-98705400	Weak transcription	Fetal Thymus	thymus
13	chr7:98677600-98693400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:98677600-98693600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:98678800-98693400	Weak transcription	Left Ventricle	heart
16	chr7:98678800-98700000	Weak transcription	HUVEC	blood vessel
17	chr7:98679000-98693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:98681600-98693200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:98681600-98693800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:98681800-98691800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:98681800-98693200	Weak transcription	Osteobl	bone
22	chr7:98681800-98693400	Weak transcription	HMEC	breast
23	chr7:98681800-98693800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:98681800-98700600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:98682600-98693200	Weak transcription	Small Intestine	intestine
26	chr7:98684200-98693400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:98684400-98691600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:98684400-98692000	Weak transcription	Fetal Brain Male	brain
29	chr7:98684400-98693000	Weak transcription	Fetal Lung	lung
30	chr7:98684400-98706600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr7:98684600-98693400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:98684600-98693400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:98684600-98693400	Weak transcription	Fetal Brain Female	brain
34	chr7:98684600-98693600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:98684600-98694600	Weak transcription	Primary B cells from cord blood	blood
36	chr7:98684600-98694800	Weak transcription	Primary T cells from cord blood	blood
37	chr7:98684600-98694800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:98685200-98690400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:98686200-98693200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:98687200-98691000	Enhancers	Liver	Liver
41	chr7:98687200-98691000	Enhancers	HepG2	liver
42	chr7:98687800-98690800	Enhancers	Pancreas	Pancrea
43	chr7:98687800-98692200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:98688000-98690600	Enhancers	Stomach Mucosa	stomach
45	chr7:98688000-98690600	Enhancers	K562	blood
46	chr7:98688000-98690800	Enhancers	A549	lung
47	chr7:98688200-98693400	Weak transcription	Esophagus	oesophagus
48	chr7:98688200-98693400	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:98688200-98693600	Weak transcription	Spleen	Spleen
50	chr7:98688200-98696800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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