Variant report

Variant	rs4498451
Chromosome Location	chr7:40001307-40001308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39999018..40002091-chr7:40005223..40009207,3	K562	blood:
2	chr7:39992254..39999333-chr7:39999543..40002599,8	K562	blood:
3	chr7:39987924..39989879-chr7:39999761..40002554,2	K562	blood:

Variant related genes	Relation type
ENSG00000065883	Chromatin interaction
ENSG00000259826	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10046564	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10224206	0.95[EUR][1000 genomes]
rs10225492	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235989	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247292	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253590	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272514	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277853	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10279016	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1082023	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12701787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231977	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239106	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310449	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310480	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434388	0.82[EUR][1000 genomes]
rs17435812	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496226	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496247	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17526699	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140254	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329611	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28547436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638437	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326687	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34470312	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748607	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35052806	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35082351	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35226291	0.81[EUR][1000 genomes]
rs35618050	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273753	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4428576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481477	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947071	0.83[EUR][1000 genomes]
rs73127832	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127862	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773382	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780996	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794792	0.81[EUR][1000 genomes]
rs7811585	0.81[EUR][1000 genomes]
rs809558	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs878785	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9639817	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9639820	0.97[EUR][1000 genomes]
rs9655407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690347	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9986996	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986997	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39991800-40005200	Weak transcription	Lung	lung
2	chr7:39992000-40006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:39994200-40008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:39994200-40027200	Weak transcription	HSMM	muscle
6	chr7:39994600-40009000	Weak transcription	HMEC	breast
7	chr7:39994800-40006600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:39994800-40008000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:39994800-40008000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:39994800-40008400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:39994800-40008400	Weak transcription	NHEK	skin
12	chr7:39994800-40018000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:39995000-40008000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:39995000-40009000	Weak transcription	Osteobl	bone
15	chr7:39995000-40018200	Weak transcription	Spleen	Spleen
16	chr7:39995200-40001400	Weak transcription	HUVEC	blood vessel
17	chr7:39995200-40002400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:39995200-40009000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:39995200-40010400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:39995200-40042600	Weak transcription	K562	blood
21	chr7:39995600-40007800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:39996000-40008800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:39996600-40008000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:39996800-40002600	Weak transcription	Fetal Intestine Large	intestine
25	chr7:39996800-40003000	Weak transcription	Fetal Brain Male	brain
26	chr7:39996800-40006600	Weak transcription	Left Ventricle	heart
27	chr7:39996800-40008000	Weak transcription	Pancreas	Pancrea
28	chr7:39996800-40014800	Weak transcription	Right Ventricle	heart
29	chr7:39996800-40016600	Weak transcription	Gastric	stomach
30	chr7:39997000-40002000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:39997200-40015200	Weak transcription	Small Intestine	intestine
32	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:39998000-40027200	Weak transcription	Hela-S3	cervix
34	chr7:39998200-40002400	Weak transcription	Fetal Lung	lung
35	chr7:39998200-40006600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:39998200-40007000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:39998200-40007800	Weak transcription	Brain Substantia Nigra	brain
38	chr7:39998200-40008000	Weak transcription	Primary T cells from cord blood	blood
39	chr7:39998200-40009000	Weak transcription	Brain Angular Gyrus	brain
40	chr7:39998200-40009800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:39998200-40010400	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:39998200-40013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:39998400-40007800	Weak transcription	Primary B cells from cord blood	blood
44	chr7:39998400-40010200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:39998600-40006600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:39998800-40002200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:39999400-40005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:39999400-40007200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:39999800-40006600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:39999800-40013600	Weak transcription	Monocytes-CD14+_RO01746	blood

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