Variant report

Variant	rs6848517
Chromosome Location	chr4:103229362-103229363
allele	C/G
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	JUND	chr4:103229257-103229540	K562	blood:	n/a	n/a
2	MYC	chr4:103229249-103229582	MCF10A-Er-Src	breast:	n/a	chr4:103229396-103229406 chr4:103229371-103229380
3	FOS	chr4:103229355-103229498	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr4:103229227-103229536	A549	lung:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
5	CEBPB	chr4:103229187-103229641	Hela-S3	cervix:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
6	MYC	chr4:103229210-103229596	K562	blood:	n/a	chr4:103229396-103229406 chr4:103229371-103229380
7	MAZ	chr4:103229346-103229425	Hela-S3	cervix:	n/a	chr4:103229371-103229380
8	USF2	chr4:103229042-103229871	Hela-S3	cervix:	n/a	n/a
9	MAX	chr4:103229192-103229686	HCT-116	colon:	n/a	chr4:103229396-103229406 chr4:103229371-103229380
10	MAX	chr4:103229136-103229713	HCT-116	colon:	n/a	chr4:103229396-103229406 chr4:103229371-103229380
11	SMC3	chr4:103229216-103229505	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr4:103229274-103229497	K562	blood:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
13	FOS	chr4:103229300-103229472	MCF10A-Er-Src	breast:	n/a	n/a
14	CEBPB	chr4:103229254-103229572	ECC-1	luminal epithelium:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
15	POLR2A	chr4:103229200-103229466	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr4:103229275-103229475	H1-hESC	embryonic stem cell:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
17	STAT3	chr4:103229248-103229517	Hela-S3	cervix:	n/a	n/a
18	MAX	chr4:103229189-103229902	Hela-S3	cervix:	n/a	chr4:103229396-103229406 chr4:103229371-103229380
19	RAD21	chr4:103229249-103229488	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr4:103229215-103229561	K562	blood:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
21	MYC	chr4:103229242-103229578	MCF10A-Er-Src	breast:	n/a	chr4:103229396-103229406 chr4:103229371-103229380
22	FOS	chr4:103229266-103229427	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr4:103229229-103229625	HCT-116	colon:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
24	POLR2A	chr4:103229204-103229505	HCT-116	colon:	n/a	n/a
25	RFX5	chr4:103229278-103229562	Hela-S3	cervix:	n/a	n/a
26	MAX	chr4:103229225-103229473	K562	blood:	n/a	chr4:103229396-103229406 chr4:103229371-103229380
27	CHD2	chr4:103229260-103229523	Hela-S3	cervix:	n/a	n/a
28	ZKSCAN1	chr4:103229358-103229679	Hela-S3	cervix:	n/a	n/a
29	RCOR1	chr4:103229253-103229529	Hela-S3	cervix:	n/a	n/a
30	TBP	chr4:103229254-103229534	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr4:103229200-103229569	MCF-7	breast:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
32	CEBPB	chr4:103229216-103229564	HepG2	liver:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
33	EP300	chr4:103229305-103229500	K562	blood:	n/a	chr4:103229368-103229382
34	CEBPB	chr4:103229331-103229508	IMR90	lung:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
35	MAX	chr4:103229234-103229930	NB4	blood:	n/a	chr4:103229396-103229406 chr4:103229371-103229380
36	EP300	chr4:103229241-103229517	Hela-S3	cervix:	n/a	chr4:103229368-103229382
37	CEBPB	chr4:103229198-103229756	HCT-116	colon:	n/a	chr4:103229371-103229382 chr4:103229452-103229463 chr4:103229452-103229463
38	POLR2A	chr4:103229157-103229466	Hela-S3	cervix:	n/a	n/a
39	RCOR1	chr4:103229222-103229491	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:103229270..103230968-chr4:103234665..103237255,2	K562	blood:
2	chr4:103229011..103230689-chr4:103265073..103267387,2	MCF-7	breast:
3	chr4:103228415..103231285-chr4:103233015..103236394,4	K562	blood:

Variant related genes	Relation type
SLC39A8	TF binding region
ENSG00000138821	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12499248	0.82[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12510124	0.81[CEU][hapmap]
rs13103835	0.87[CHB][hapmap]
rs1381893	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs1462943	0.86[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs1462950	0.82[CEU][hapmap]
rs2054393	0.86[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs233820	0.80[JPT][hapmap]
rs4557261	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs4699012	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs7436937	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs985989	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv428447	chr4:103103730-103262107	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103181800-103230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:103186600-103229600	Weak transcription	Pancreas	Pancrea
4	chr4:103187200-103229400	Weak transcription	Fetal Thymus	thymus
5	chr4:103189800-103232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:103196200-103242400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:103210400-103256800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:103214800-103243200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:103217600-103236600	Weak transcription	Liver	Liver
10	chr4:103218000-103242800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:103218200-103239800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:103218600-103245800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:103219200-103242600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:103220600-103233600	Weak transcription	Primary T cells from cord blood	blood
15	chr4:103221200-103231000	Weak transcription	GM12878-XiMat	blood
16	chr4:103221200-103235600	Weak transcription	Lung	lung
17	chr4:103221200-103237400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:103221400-103231200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:103221400-103239000	Weak transcription	Ovary	ovary
20	chr4:103221400-103242600	Weak transcription	K562	blood
21	chr4:103224000-103233600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:103224000-103263600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:103224400-103239800	Weak transcription	Colonic Mucosa	Colon
24	chr4:103224800-103229400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr4:103225000-103230800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:103225600-103240200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:103225800-103237800	Weak transcription	Primary B cells from cord blood	blood
28	chr4:103226600-103230400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:103227200-103229400	Weak transcription	Hela-S3	cervix
30	chr4:103227400-103231000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:103228000-103242400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:103228200-103229600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:103228200-103229800	Enhancers	HMEC	breast
34	chr4:103228200-103233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:103228200-103242800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:103228400-103235400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:103228600-103230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:103228600-103239200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:103228600-103242600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:103228800-103229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:103229000-103229600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:103229000-103229600	Enhancers	Placenta	Placenta
43	chr4:103229000-103229600	Enhancers	NHEK	skin
44	chr4:103229000-103231200	Genic enhancers	Dnd41	blood
45	chr4:103229200-103229400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:103229200-103229400	Enhancers	Left Ventricle	heart
47	chr4:103229200-103229800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr4:103229200-103229800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr4:103229200-103229800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr4:103229200-103229800	Enhancers	Monocytes-CD14+_RO01746	blood

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