Variant report

Variant	rs4683157
Chromosome Location	chr3:46004307-46004308
allele	C/T
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	POLR2A	chr3:46004287-46004486	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:46004092..46006174-chr3:46012049..46014737,3	K562	blood:
2	chr3:46002701..46006681-chr3:46007479..46011297,4	K562	blood:
3	chr3:45958439..45960531-chr3:46002605..46005170,2	K562	blood:

Variant related genes	Relation type
FYCO1	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1072755	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11130080	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12495073	0.92[CEU][hapmap]
rs12630101	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12635494	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12635657	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs12639598	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13066048	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13073861	0.85[CEU][hapmap]
rs13091821	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13091979	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1392291	0.81[ASN][1000 genomes]
rs1532071	0.95[ASN][1000 genomes]
rs1552489	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1552490	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1601867	0.97[ASN][1000 genomes]
rs17078449	0.81[CHB][hapmap]
rs17078495	0.80[ASN][1000 genomes]
rs1994488	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1994489	0.95[ASN][1000 genomes]
rs1994490	0.86[ASN][1000 genomes]
rs2054866	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2131091	0.84[CEU][hapmap]
rs2234358	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2248228	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291470	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2373154	0.92[CEU][hapmap]
rs35465473	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35537559	0.80[ASN][1000 genomes]
rs3733100	0.86[ASN][1000 genomes]
rs3733103	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3774634	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774635	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3774638	0.86[CHB][hapmap]
rs3774639	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3796375	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3821884	0.83[ASN][1000 genomes]
rs4535265	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4682799	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4682800	0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4683147	0.83[CEU][hapmap]
rs4683148	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4683149	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4683152	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683154	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4683156	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59226168	0.80[ASN][1000 genomes]
rs62242796	0.80[ASN][1000 genomes]
rs67044455	0.80[ASN][1000 genomes]
rs6778896	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7129	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs730983	0.96[CEU][hapmap];0.80[ASN][1000 genomes]
rs737452	0.96[CEU][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs751552	0.96[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs751553	0.96[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9311380	0.95[ASN][1000 genomes]
rs931704	0.80[ASN][1000 genomes]
rs936938	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs936939	0.86[CHB][hapmap]
rs9824253	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9831315	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45959400-46009800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:45980800-46013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
4	chr3:45983200-46012400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:45986200-46006800	Strong transcription	Fetal Intestine Small	intestine
6	chr3:45986200-46007600	Strong transcription	Fetal Stomach	stomach
7	chr3:45986400-46006200	Strong transcription	Fetal Muscle Leg	muscle
8	chr3:45986400-46006800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:45986400-46007600	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:45986400-46012200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:45986600-46009000	Strong transcription	Primary B cells from cord blood	blood
13	chr3:45986600-46012000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:45986800-46012200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr3:45987200-46013600	Strong transcription	Primary hematopoietic stem cells	blood
17	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:45987600-46007800	Strong transcription	K562	blood
20	chr3:45987800-46012200	Strong transcription	HepG2	liver
21	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:45988000-46012000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:45988200-46009800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:45988200-46012000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:45988800-46011800	Strong transcription	Lung	lung
29	chr3:45989400-46013800	Strong transcription	Dnd41	blood
30	chr3:45990600-46017200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr3:45991200-46006800	Strong transcription	HSMMtube	muscle
32	chr3:45991200-46012000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr3:45991200-46017400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr3:45991400-46009800	Strong transcription	Aorta	Aorta
35	chr3:45991400-46009800	Strong transcription	NHLF	lung
36	chr3:45992600-46013200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:45992600-46013600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:45992800-46006400	Strong transcription	Primary T cells from cord blood	blood
39	chr3:45993000-46013600	Strong transcription	Thymus	Thymus
40	chr3:45993200-46007000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:45994200-46007600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:45994400-46007600	Strong transcription	Adipose Nuclei	Adipose
43	chr3:45994400-46008000	Strong transcription	Placenta	Placenta
44	chr3:45995000-46007400	Strong transcription	HUVEC	blood vessel
45	chr3:45995200-46005600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:45995400-46008400	Weak transcription	Fetal Brain Male	brain
47	chr3:45996200-46025400	Strong transcription	Liver	Liver
48	chr3:45998400-46009600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:45998800-46008400	Strong transcription	Colonic Mucosa	Colon
50	chr3:45999000-46008000	Strong transcription	Gastric	stomach

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