Variant report

Variant	rs4693375
Chromosome Location	chr4:95133241-95133242
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr4:95132955-95133440	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:94760735..94763109-chr4:95132947..95134725,2	K562	blood:
2	chr4:95132907..95134525-chr4:95158211..95160242,2	K562	blood:
3	chr4:95109304..95112134-chr4:95131785..95134096,2	K562	blood:
4	chr4:95133025..95135753-chr4:95158742..95161544,2	K562	blood:

Variant related genes	Relation type
ENSG00000246541	TF binding region

Extended variants
information (count: 168 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10000247	0.82[ASN][1000 genomes]
rs10008044	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10016806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10018905	0.91[EUR][1000 genomes]
rs10023115	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10024198	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10024642	0.95[ASN][1000 genomes]
rs10030586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10034781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10433969	0.89[EUR][1000 genomes]
rs10433970	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10516947	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10516950	0.83[ASN][1000 genomes]
rs10856908	0.94[ASN][1000 genomes]
rs10856909	0.89[JPT][hapmap]
rs11097406	0.96[ASN][1000 genomes]
rs11097407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11097408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11097411	0.94[ASN][1000 genomes]
rs11097417	0.89[JPT][hapmap]
rs11722476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11727030	0.89[JPT][hapmap]
rs11943926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12501138	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12505596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12510326	0.88[ASN][1000 genomes]
rs12511433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12513267	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12643901	0.96[ASN][1000 genomes]
rs12645192	0.91[ASN][1000 genomes]
rs12646184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13108619	0.81[ASN][1000 genomes]
rs13111083	0.95[ASN][1000 genomes]
rs13112528	0.95[ASN][1000 genomes]
rs13132963	0.92[ASN][1000 genomes]
rs13135934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13142645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13434570	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13435702	0.95[ASN][1000 genomes]
rs1509945	0.86[EUR][1000 genomes]
rs1509946	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1565062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1585651	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17021463	0.94[ASN][1000 genomes]
rs17302300	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17310266	0.93[ASN][1000 genomes]
rs17310526	0.92[ASN][1000 genomes]
rs17374832	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17376404	0.94[ASN][1000 genomes]
rs17376488	0.94[ASN][1000 genomes]
rs17623135	0.93[ASN][1000 genomes]
rs1828324	0.83[ASN][1000 genomes]
rs183993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1876917	0.95[ASN][1000 genomes]
rs1876918	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1991316	0.89[JPT][hapmap]
rs2016476	0.83[ASN][1000 genomes]
rs2016483	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2059605	0.83[ASN][1000 genomes]
rs2087170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2129595	0.92[ASN][1000 genomes]
rs2171381	0.94[ASN][1000 genomes]
rs2171384	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276910	1.00[ASN][1000 genomes]
rs2289186	0.81[ASN][1000 genomes]
rs2632399	0.95[ASN][1000 genomes]
rs2632401	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2632405	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2632410	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2632411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[ASN][1000 genomes]
rs2632417	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2664871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2664872	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2664880	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2664881	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2664892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2664894	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs282447	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs282448	0.93[ASN][1000 genomes]
rs282449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs282450	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28403447	0.82[ASN][1000 genomes]
rs28408270	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28469860	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2865343	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2865344	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2865345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs28696050	0.98[ASN][1000 genomes]
rs28815470	0.86[ASN][1000 genomes]
rs2883	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2902979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3106133	0.93[ASN][1000 genomes]
rs3106134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3106135	0.96[ASN][1000 genomes]
rs3106136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3113862	0.96[ASN][1000 genomes]
rs3113863	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34145031	0.93[ASN][1000 genomes]
rs34383543	0.87[ASN][1000 genomes]
rs34396894	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34465979	0.83[ASN][1000 genomes]
rs34711938	0.92[ASN][1000 genomes]
rs35361491	0.93[ASN][1000 genomes]
rs35670996	0.93[ASN][1000 genomes]
rs35995707	0.93[ASN][1000 genomes]
rs4235050	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4438731	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4558832	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4560373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4692999	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4693000	0.92[ASN][1000 genomes]
rs4693003	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4693004	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4693374	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4693376	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4693377	0.94[ASN][1000 genomes]
rs4693378	0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4693381	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs56197713	0.91[ASN][1000 genomes]
rs60428594	0.96[ASN][1000 genomes]
rs61004493	0.93[ASN][1000 genomes]
rs61069704	0.95[ASN][1000 genomes]
rs61514245	0.93[ASN][1000 genomes]
rs6532469	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6532472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6532476	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs66581998	0.90[ASN][1000 genomes]
rs67552174	0.90[ASN][1000 genomes]
rs6815207	0.81[EUR][1000 genomes]
rs6817795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6821438	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6821638	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6823404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs6840674	0.94[ASN][1000 genomes]
rs6841121	0.94[ASN][1000 genomes]
rs6855358	0.81[AFR][1000 genomes]
rs6857967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6858265	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6858342	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs722486	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72665608	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665629	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665658	0.96[ASN][1000 genomes]
rs7435106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7437089	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7438414	0.89[JPT][hapmap]
rs7439869	0.86[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs7442254	0.89[ASN][1000 genomes]
rs7654565	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7654919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657789	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7669168	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs767657	0.83[ASN][1000 genomes]
rs7676797	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7678054	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7680953	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7685121	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7697827	0.95[ASN][1000 genomes]
rs8026	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs8336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs901615	0.83[ASN][1000 genomes]
rs9307136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307137	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9884209	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9884431	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879618	chr4:94980768-95136164	Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95129800-95137200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:95129800-95137200	Weak transcription	Aorta	Aorta
3	chr4:95129800-95139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:95129800-95161800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:95130000-95133800	Weak transcription	Left Ventricle	heart
6	chr4:95130000-95134200	Weak transcription	Ovary	ovary
7	chr4:95130000-95135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:95130000-95137600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr4:95130000-95141600	Weak transcription	Esophagus	oesophagus
10	chr4:95130000-95148000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:95130000-95176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:95130200-95133400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:95130200-95133400	Weak transcription	Psoas Muscle	Psoas
14	chr4:95130200-95133400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:95130200-95134000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:95130200-95134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:95130200-95134400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:95130200-95134400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:95130200-95135200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr4:95130200-95136200	Weak transcription	Stomach Mucosa	stomach
21	chr4:95130200-95138400	Strong transcription	Fetal Thymus	thymus
22	chr4:95130200-95162600	Weak transcription	Pancreas	Pancrea
23	chr4:95130200-95162600	Weak transcription	Small Intestine	intestine
24	chr4:95130200-95164000	Weak transcription	Spleen	Spleen
25	chr4:95130200-95193000	Weak transcription	Right Ventricle	heart
26	chr4:95130200-95194000	Weak transcription	Gastric	stomach
27	chr4:95130200-95198200	Weak transcription	Colonic Mucosa	Colon
28	chr4:95130400-95134000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:95130400-95134000	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:95130400-95134000	Weak transcription	Brain Substantia Nigra	brain
31	chr4:95130400-95134000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:95130400-95134200	Weak transcription	Brain Anterior Caudate	brain
33	chr4:95130400-95134400	Weak transcription	HSMMtube	muscle
34	chr4:95130400-95152000	Weak transcription	Brain Angular Gyrus	brain
35	chr4:95130600-95134400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:95130600-95143200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:95130600-95151600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:95130800-95134000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:95131000-95135400	Strong transcription	K562	blood
40	chr4:95131000-95136600	Strong transcription	NHLF	lung
41	chr4:95131000-95138000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:95131000-95138000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:95131000-95138600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:95131200-95134000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:95131200-95134000	Weak transcription	Primary B cells from cord blood	blood
46	chr4:95131200-95135800	Strong transcription	Placenta	Placenta
47	chr4:95131200-95136200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:95131200-95138000	Strong transcription	HSMM	muscle
49	chr4:95131200-95138600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:95131200-95143800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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