Variant report

Variant	rs7634158
Chromosome Location	chr3:142227902-142227903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142226820..142229052-chr3:142234427..142237247,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10935461	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs10935465	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1129393	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11925693	0.93[CHD][hapmap];0.82[GIH][hapmap]
rs13061823	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs13065075	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13067795	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13069307	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13075471	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13079246	0.81[CEU][hapmap]
rs13085998	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13093869	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13098343	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1357530	0.92[CEU][hapmap]
rs16852486	0.81[CEU][hapmap]
rs1983434	0.92[CEU][hapmap];0.89[GIH][hapmap];0.92[TSI][hapmap]
rs2030613	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs2049325	0.92[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.92[TSI][hapmap]
rs2140432	0.92[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.92[TSI][hapmap]
rs2227928	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2227930	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28617475	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2862743	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs2862745	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs2883380	0.81[CEU][hapmap]
rs3816805	0.86[ASW][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap]
rs3922730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4273389	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4413348	0.92[CEU][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.92[TSI][hapmap]
rs4441672	0.91[CHB][hapmap]
rs4597728	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4683690	0.81[CEU][hapmap]
rs6414350	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440078	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[YRI][hapmap]
rs6440082	1.00[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[YRI][hapmap]
rs6440086	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440087	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440088	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6440089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6440090	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6440091	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440092	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440093	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6440098	0.92[CEU][hapmap];0.86[GIH][hapmap];0.90[TSI][hapmap]
rs6768093	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6769786	0.91[CHB][hapmap]
rs6770155	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6772400	0.91[CHB][hapmap]
rs6775583	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6775718	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6775813	0.92[CEU][hapmap]
rs6780250	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6782400	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6785675	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6789958	0.80[CEU][hapmap]
rs6791816	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6792259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6793735	0.81[CEU][hapmap]
rs6798232	0.81[CEU][hapmap]
rs6799752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6800695	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs6802631	0.86[CHB][hapmap]
rs6808205	0.81[CEU][hapmap]
rs7428496	0.80[ASN][1000 genomes]
rs7430429	0.81[CEU][hapmap]
rs7610557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7615316	0.92[CEU][hapmap]
rs7623524	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7630130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7631313	0.92[CEU][hapmap]
rs7641330	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7647573	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651542	0.84[ASN][1000 genomes]
rs7652687	0.91[CHD][hapmap]
rs9289647	0.91[CHB][hapmap]
rs9289648	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs9683085	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9808914	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9808943	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9816736	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9820353	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9820770	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9821271	0.90[CHB][hapmap]
rs9825207	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9826786	0.86[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap]
rs9828178	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9832606	0.81[CEU][hapmap]
rs9843148	0.87[CHB][hapmap]
rs9846960	0.88[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9847364	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs9855140	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9855919	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861997	0.91[CHB][hapmap]
rs9862919	0.90[CEU][hapmap];0.80[JPT][hapmap]
rs9866958	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs9869842	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9871402	0.81[EUR][1000 genomes]
rs9876254	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9879995	0.92[EUR][1000 genomes];0.88[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	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv877561	chr3:142152925-142331360	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv933680	chr3:142211643-142287189	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv591919	chr3:142219542-142308070	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7634158	XRN1	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142167400-142234600	Weak transcription	Psoas Muscle	Psoas
2	chr3:142200400-142243800	Weak transcription	Fetal Heart	heart
3	chr3:142200600-142271800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:142201000-142239600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:142201000-142240600	Weak transcription	Fetal Brain Male	brain
6	chr3:142201600-142273200	Weak transcription	Esophagus	oesophagus
7	chr3:142201800-142240600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:142201800-142243600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:142201800-142273800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:142202000-142231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:142202000-142235200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:142202000-142239600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:142202200-142240200	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:142203000-142255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:142203800-142255200	Weak transcription	Gastric	stomach
16	chr3:142204200-142228000	Weak transcription	Pancreas	Pancrea
17	chr3:142204200-142253000	Weak transcription	Brain Substantia Nigra	brain
18	chr3:142204200-142273200	Weak transcription	Spleen	Spleen
19	chr3:142204200-142281400	Weak transcription	Colonic Mucosa	Colon
20	chr3:142207400-142238600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:142208400-142231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:142208800-142239600	Weak transcription	Fetal Brain Female	brain
23	chr3:142209400-142271800	Weak transcription	HepG2	liver
24	chr3:142210400-142231000	Weak transcription	Aorta	Aorta
25	chr3:142210400-142240600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr3:142211400-142240600	Weak transcription	Brain Germinal Matrix	brain
27	chr3:142212000-142251400	Weak transcription	Brain Anterior Caudate	brain
28	chr3:142212600-142240000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:142212600-142240000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:142212800-142238600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:142213600-142238800	Weak transcription	Ovary	ovary
32	chr3:142217200-142229000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:142217600-142239200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:142217800-142230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:142218000-142230800	Weak transcription	Fetal Intestine Large	intestine
36	chr3:142218000-142232400	Weak transcription	Placenta	Placenta
37	chr3:142218200-142230800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:142218200-142232000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:142218200-142251200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:142220200-142251200	Weak transcription	NHDF-Ad	bronchial
41	chr3:142220200-142252400	Weak transcription	NHLF	lung
42	chr3:142220400-142232200	Weak transcription	HUVEC	blood vessel
43	chr3:142220600-142231000	Weak transcription	NHEK	skin
44	chr3:142220600-142232200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:142220600-142253000	Weak transcription	HMEC	breast
46	chr3:142220800-142251400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:142221000-142249400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr3:142221200-142235200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:142221800-142230800	Weak transcription	Fetal Lung	lung
50	chr3:142221800-142231000	Weak transcription	Fetal Kidney	kidney

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