Variant report

Variant	rs7683815
Chromosome Location	chr4:151244918-151244919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151233974..151236166-chr4:151243561..151246301,3	K562	blood:
2	chr4:151240646..151243046-chr4:151243526..151245377,2	K562	blood:
3	chr4:151236375..151241361-chr4:151242903..151246234,4	K562	blood:
4	chr4:151242129..151245111-chr4:151249733..151251799,3	K562	blood:
5	chr4:151233974..151240316-chr4:151243440..151247752,8	K562	blood:

Variant related genes	Relation type
ENSG00000198589	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10010954	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10471054	0.96[EUR][1000 genomes]
rs10520063	0.92[EUR][1000 genomes]
rs13136928	0.96[EUR][1000 genomes]
rs1459743	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1507189	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546417	0.96[EUR][1000 genomes]
rs1960919	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2359941	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4458434	0.94[EUR][1000 genomes]
rs4696254	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6535731	0.84[EUR][1000 genomes]
rs6535732	0.94[EUR][1000 genomes]
rs6535733	0.96[EUR][1000 genomes]
rs6843645	0.84[EUR][1000 genomes]
rs6844752	0.84[EUR][1000 genomes]
rs7657948	0.94[EUR][1000 genomes]
rs7659675	0.94[EUR][1000 genomes]
rs7687678	0.94[EUR][1000 genomes]
rs7691809	0.94[EUR][1000 genomes]
rs7692491	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs995227	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv880259	chr4:151210761-151367745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv880260	chr4:151214038-151331191	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151191400-151245200	Weak transcription	Small Intestine	intestine
2	chr4:151205000-151272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:151221800-151259600	Weak transcription	Fetal Intestine Small	intestine
4	chr4:151224000-151259000	Weak transcription	Ovary	ovary
5	chr4:151224200-151274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:151226000-151249000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:151226800-151272400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:151227400-151269400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:151227800-151248400	Weak transcription	Adipose Nuclei	Adipose
10	chr4:151231600-151257800	Weak transcription	Liver	Liver
11	chr4:151232400-151255200	Weak transcription	Aorta	Aorta
12	chr4:151233000-151246600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:151233400-151264200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:151233400-151264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:151233600-151253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:151235200-151249600	Weak transcription	Gastric	stomach
17	chr4:151236400-151272600	Weak transcription	Thymus	Thymus
18	chr4:151236600-151251200	Weak transcription	Colonic Mucosa	Colon
19	chr4:151236600-151259000	Weak transcription	Left Ventricle	heart
20	chr4:151236800-151264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:151238000-151245800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:151238200-151247800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:151238200-151270200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:151239000-151248600	Weak transcription	Right Ventricle	heart
25	chr4:151239800-151245200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr4:151240600-151259000	Weak transcription	Pancreas	Pancrea
27	chr4:151241000-151248600	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:151241200-151245000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:151241800-151245800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:151242200-151246200	Weak transcription	Fetal Intestine Large	intestine
31	chr4:151242600-151246200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:151242600-151247000	Weak transcription	GM12878-XiMat	blood
33	chr4:151242600-151268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:151242800-151246600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:151242800-151273800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:151243000-151245000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:151243000-151246200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:151243000-151248400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:151243000-151277000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:151243000-151277400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:151243000-151312000	Weak transcription	Primary B cells from cord blood	blood
42	chr4:151243600-151247400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:151243600-151248000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr4:151243600-151248800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:151243800-151258600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:151244000-151245200	Enhancers	HUVEC	blood vessel
47	chr4:151244000-151245400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:151244000-151245400	Enhancers	Fetal Lung	lung
49	chr4:151244000-151246200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:151244200-151300600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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