Variant report

Variant	rs1509655
Chromosome Location	chr4:48271762-48271763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:74448509..74449477-chr4:48271558..48272150,2	Hela-S3	cervix:
2	chr1:36234965..36235557-chr4:48271368..48271893,2	Hela-S3	cervix:
3	chr16:30388892..30389437-chr4:48271312..48272199,2	Hela-S3	cervix:
4	chr12:120729424..120730098-chr4:48271378..48272195,2	Hela-S3	cervix:
5	chr19:40931605..40932510-chr4:48271137..48271845,2	Hela-S3	cervix:
6	chr2:96873932..96874574-chr4:48271406..48272081,2	Hela-S3	cervix:
7	chr4:48270358..48273390-chr4:48340605..48344777,4	MCF-7	breast:
8	chr4:48270141..48273598-chr4:48341900..48344865,7	K562	blood:
9	chr4:48200101..48201896-chr4:48269773..48271789,2	K562	blood:
10	chr17:42297784..42298646-chr4:48271426..48272068,2	Hela-S3	cervix:
11	chr1:110090966..110091798-chr4:48271404..48272367,2	Hela-S3	cervix:
12	chr16:9185283..9185902-chr4:48271309..48272302,2	Hela-S3	cervix:
13	chr4:48191298..48193401-chr4:48269923..48271820,2	K562	blood:
14	chr12:56511687..56512571-chr4:48271561..48272061,2	Hela-S3	cervix:
15	chr4:48264879..48267835-chr4:48269527..48271829,4	K562	blood:
16	chr4:48269261..48273807-chr4:48342628..48344865,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092853	Chromatin interaction
ENSG00000175931	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000065135	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000108312	Chromatin interaction
ENSG00000182831	Chromatin interaction
ENSG00000109171	Chromatin interaction
ENSG00000129673	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000197019	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10433686	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10433724	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11724334	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11732570	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11932069	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11934137	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12499189	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs170145	0.84[EUR][1000 genomes]
rs1828297	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1848742	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1912162	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2136503	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2353304	0.88[AMR][1000 genomes]
rs2664024	0.82[EUR][1000 genomes]
rs2664027	0.82[EUR][1000 genomes]
rs2704409	0.82[EUR][1000 genomes]
rs309883	0.82[EUR][1000 genomes]
rs309891	0.81[EUR][1000 genomes]
rs309892	0.82[EUR][1000 genomes]
rs368292	0.82[EUR][1000 genomes]
rs373720	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs379323	0.82[EUR][1000 genomes]
rs430599	0.81[EUR][1000 genomes]
rs4529022	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694892	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55656036	0.88[AMR][1000 genomes]
rs56041079	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56063319	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58166553	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58372912	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59349478	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59741528	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59896383	0.83[AMR][1000 genomes]
rs62309361	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62309362	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62311478	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62311498	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6447626	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6447627	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6836661	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6840958	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6852406	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6858850	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7657451	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7659044	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7665958	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7666809	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7688059	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7693991	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv461358	chr4:48251916-48274152	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv594120	chr4:48251916-48274152	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 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	chr4:48269800-48272800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:48270000-48272400	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr4:48270200-48272200	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr4:48270400-48272200	Active TSS	GM12878-XiMat	blood
5	chr4:48270600-48272400	Active TSS	Right Ventricle	heart
6	chr4:48270600-48272600	Active TSS	NHDF-Ad	bronchial
7	chr4:48270600-48272800	Active TSS	A549	lung
8	chr4:48270600-48272800	Active TSS	NHLF	lung
9	chr4:48270800-48271800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr4:48270800-48272000	Active TSS	Fetal Thymus	thymus
11	chr4:48270800-48272200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr4:48270800-48272200	Active TSS	NHEK	skin
13	chr4:48270800-48272400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr4:48270800-48272400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:48270800-48272400	Active TSS	Fetal Intestine Large	intestine
16	chr4:48270800-48272400	Active TSS	Fetal Intestine Small	intestine
17	chr4:48270800-48272400	Active TSS	Fetal Kidney	kidney
18	chr4:48270800-48272400	Active TSS	Fetal Lung	lung
19	chr4:48270800-48272400	Active TSS	HSMM	muscle
20	chr4:48270800-48272400	Active TSS	K562	blood
21	chr4:48270800-48272600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr4:48270800-48272600	Active TSS	HSMMtube	muscle
23	chr4:48270800-48272800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr4:48270800-48272800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr4:48270800-48272800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:48270800-48272800	Active TSS	Primary T cells from cord blood	blood
27	chr4:48270800-48272800	Active TSS	Rectal Smooth Muscle	rectum
28	chr4:48271000-48272000	Active TSS	Primary T cells fromperipheralblood	blood
29	chr4:48271000-48272000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:48271000-48272000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:48271000-48272200	Active TSS	Primary B cells from peripheral blood	blood
32	chr4:48271000-48272200	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr4:48271000-48272200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:48271000-48272200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:48271000-48272200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr4:48271000-48272200	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr4:48271000-48272200	Active TSS	Thymus	Thymus
38	chr4:48271000-48272400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr4:48271000-48272400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:48271000-48272400	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr4:48271000-48272400	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr4:48271000-48272400	Active TSS	Duodenum Mucosa	Duodenum
43	chr4:48271000-48272400	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr4:48271000-48272400	Active TSS	Hela-S3	cervix
45	chr4:48271000-48272600	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:48271000-48272600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:48271000-48272600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:48271000-48272600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:48271000-48272600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:48271000-48272600	Active TSS	Liver	Liver

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