Variant report

Variant	rs7633271
Chromosome Location	chr3:49555963-49555964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49554866..49557118-chr3:49574115..49576827,2	K562	blood:
2	chr3:49550928..49553417-chr3:49555152..49556759,2	MCF-7	breast:
3	chr3:49555962..49557496-chr3:49560645..49562383,2	K562	blood:
4	chr3:49551705..49554065-chr3:49554259..49559105,5	K562	blood:
5	chr3:49507807..49509484-chr3:49555798..49559257,3	MCF-7	breast:

Extended variants
information (count: 139 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10212296	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1050088	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1050450	0.82[AMR][1000 genomes]
rs10640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10865955	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11130192	1.00[JPT][hapmap]
rs11130199	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11130202	0.94[ASN][1000 genomes]
rs11130203	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130206	0.84[ASN][1000 genomes]
rs11130213	1.00[CEU][hapmap]
rs1131095	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs11706370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes]
rs11708955	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11709525	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs11711485	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11712569	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713474	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11715915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11716974	0.86[AMR][1000 genomes]
rs11718165	1.00[CEU][hapmap]
rs11719996	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720264	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11720458	0.86[ASN][1000 genomes]
rs11720597	0.87[EUR][1000 genomes]
rs11919311	0.86[JPT][hapmap]
rs11922013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11926781	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12330269	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488065	0.88[ASN][1000 genomes]
rs12489092	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13062429	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13064576	0.85[EUR][1000 genomes]
rs13079082	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079643	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13085791	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs13087851	0.83[AMR][1000 genomes]
rs13090388	0.82[AMR][1000 genomes]
rs1464566	1.00[JPT][hapmap]
rs1464567	1.00[JPT][hapmap]
rs1464568	1.00[JPT][hapmap]
rs1568661	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17080528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs17650792	1.00[JPT][hapmap]
rs1800668	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs1801143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873625	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1873626	0.88[JPT][hapmap]
rs1987628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs2172252	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs2312461	0.94[ASN][1000 genomes]
rs2329020	0.86[JPT][hapmap]
rs3197999	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs34196454	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34293138	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34363169	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427167	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34588335	0.82[AMR][1000 genomes]
rs34762726	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs35115732	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35169793	0.82[AMR][1000 genomes]
rs35261698	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35701831	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs35999162	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811697	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes]
rs3870337	0.94[ASN][1000 genomes]
rs3870338	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3877784	0.94[ASN][1000 genomes]
rs3924462	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3926569	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4241406	0.86[ASN][1000 genomes]
rs4283605	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs4625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4855836	0.94[ASN][1000 genomes]
rs4855839	1.00[JPT][hapmap]
rs4855842	1.00[JPT][hapmap]
rs4855852	0.86[JPT][hapmap]
rs4855855	0.85[ASN][1000 genomes]
rs4855859	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4855861	0.94[ASN][1000 genomes]
rs4855864	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4855866	0.80[ASN][1000 genomes]
rs4855873	1.00[JPT][hapmap]
rs4855877	1.00[JPT][hapmap]
rs4855881	0.86[JPT][hapmap]
rs56116382	0.87[ASN][1000 genomes]
rs62261185	0.81[ASN][1000 genomes]
rs6446264	0.83[AMR][1000 genomes]
rs6446272	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6446277	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67216675	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67485053	0.83[AMR][1000 genomes]
rs6766131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6766581	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770670	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs6779524	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6782577	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs6784820	1.00[JPT][hapmap]
rs6793308	0.82[AMR][1000 genomes]
rs6797664	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803222	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs6809216	0.82[AMR][1000 genomes]
rs6997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71324962	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71615484	0.96[ASN][1000 genomes]
rs7371895	0.82[ASN][1000 genomes]
rs7622302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623659	0.82[AMR][1000 genomes]
rs7630869	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7637999	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7643845	0.94[ASN][1000 genomes]
rs7646366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7648841	0.83[AMR][1000 genomes]
rs885592	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9811982	1.00[CEU][hapmap]
rs9812791	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs9814873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9818590	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821311	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9822268	1.00[CEU][hapmap]
rs9823546	1.00[CEU][hapmap]
rs9827021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827708	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs9837027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9837341	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs9841110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9850072	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9858213	0.89[CEU][hapmap]
rs9858280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9858418	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9858542	1.00[CEU][hapmap]
rs9859556	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9871380	0.85[AMR][1000 genomes]
rs9875617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs9878943	0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs9882740	1.00[CEU][hapmap];0.86[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7633271	FAM212A	cis	Muscle Skeletal	GTEx
rs7633271	IHPK2	Cis_1M	lymphoblastoid	RTeQTL
rs7633271	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49529600-49568600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:49539600-49568600	Weak transcription	Small Intestine	intestine
3	chr3:49546200-49577000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr3:49546600-49556200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:49546600-49556400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:49547000-49572000	Weak transcription	Fetal Brain Male	brain
7	chr3:49547400-49562200	Strong transcription	Primary T cells from cord blood	blood
8	chr3:49547600-49556000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:49547600-49556200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:49547600-49564200	Strong transcription	Fetal Intestine Small	intestine
11	chr3:49547800-49556200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:49547800-49556200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:49547800-49556400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr3:49547800-49557200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:49547800-49557800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr3:49547800-49558000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:49547800-49559000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:49547800-49560400	Strong transcription	Fetal Thymus	thymus
19	chr3:49547800-49562800	Strong transcription	Fetal Stomach	stomach
20	chr3:49548000-49556200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:49548000-49556400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:49548000-49562800	Strong transcription	Fetal Intestine Large	intestine
23	chr3:49548200-49556400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr3:49548400-49577400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:49549200-49568800	Weak transcription	Osteobl	bone
26	chr3:49549800-49557400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr3:49550000-49556600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr3:49550200-49558000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr3:49550400-49556400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:49550600-49558600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr3:49550800-49556600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:49550800-49568400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:49551200-49556200	Weak transcription	Brain Substantia Nigra	brain
34	chr3:49551200-49561600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:49551400-49571400	Weak transcription	Stomach Mucosa	stomach
36	chr3:49551400-49572200	Weak transcription	NH-A	brain
37	chr3:49551600-49556400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:49551600-49556400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:49551600-49567600	Weak transcription	K562	blood
40	chr3:49551600-49569400	Weak transcription	Fetal Kidney	kidney
41	chr3:49551800-49557400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:49552200-49558200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:49552800-49556000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:49552800-49557000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr3:49553000-49556200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:49553000-49556200	Strong transcription	Fetal Brain Female	brain
47	chr3:49553000-49556200	Strong transcription	Dnd41	blood
48	chr3:49553000-49556400	Strong transcription	Spleen	Spleen
49	chr3:49553000-49556600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr3:49553000-49556800	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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