Variant report

Variant	rs7675605
Chromosome Location	chr4:99396750-99396751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10017792	0.97[ASN][1000 genomes]
rs10030765	0.94[ASN][1000 genomes]
rs12501972	0.97[ASN][1000 genomes]
rs12503056	0.97[ASN][1000 genomes]
rs12508322	0.89[ASN][1000 genomes]
rs17027603	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1913488	0.97[ASN][1000 genomes]
rs2090118	0.94[ASN][1000 genomes]
rs28416087	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28568441	0.94[ASN][1000 genomes]
rs28733733	0.94[ASN][1000 genomes]
rs28798461	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6834829	0.94[ASN][1000 genomes]
rs6835676	0.94[ASN][1000 genomes]
rs6845766	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73832309	0.97[ASN][1000 genomes]
rs7664210	0.97[ASN][1000 genomes]
rs7676285	0.97[ASN][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	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised 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
5	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99389200-99397400	Weak transcription	Fetal Brain Male	brain
2	chr4:99389200-99398200	Weak transcription	Aorta	Aorta
3	chr4:99389200-99403600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:99389200-99404000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:99389200-99404000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:99389200-99404000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:99389200-99404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:99389200-99407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:99389200-99413000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:99389400-99396800	Weak transcription	Primary B cells from cord blood	blood
11	chr4:99389400-99399600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:99389400-99401800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:99389400-99402800	Weak transcription	A549	lung
14	chr4:99389400-99403000	Weak transcription	Fetal Kidney	kidney
15	chr4:99389400-99403200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:99389400-99403800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:99389400-99419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:99390000-99398200	Weak transcription	Esophagus	oesophagus
19	chr4:99390000-99400000	Weak transcription	Fetal Intestine Large	intestine
20	chr4:99390000-99405000	Weak transcription	Fetal Intestine Small	intestine
21	chr4:99390200-99398400	Weak transcription	Lung	lung
22	chr4:99390200-99399400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:99390200-99402000	Weak transcription	Pancreas	Pancrea
24	chr4:99390200-99402200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:99390200-99402400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:99390200-99404000	Weak transcription	Spleen	Spleen
27	chr4:99390200-99404200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:99390200-99405400	Weak transcription	Left Ventricle	heart
29	chr4:99390400-99400200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:99390800-99413200	Weak transcription	Brain Anterior Caudate	brain
31	chr4:99391000-99399800	Strong transcription	Fetal Brain Female	brain
32	chr4:99391200-99400200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:99391400-99401800	Weak transcription	Fetal Heart	heart
34	chr4:99391600-99400400	Strong transcription	Fetal Stomach	stomach
35	chr4:99391800-99399600	Weak transcription	Stomach Mucosa	stomach
36	chr4:99391800-99401800	Weak transcription	Gastric	stomach
37	chr4:99392000-99404600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:99392200-99402400	Weak transcription	HSMMtube	muscle
39	chr4:99392200-99402800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr4:99392600-99398800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:99392600-99403600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:99392600-99408600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:99392600-99411800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:99392800-99397000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:99393000-99398800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr4:99393400-99397200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:99393600-99397400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:99393600-99398200	Weak transcription	Placenta	Placenta
49	chr4:99393800-99397000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:99393800-99397200	Weak transcription	Fetal Muscle Trunk	muscle

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