Variant report

Variant	rs6853124
Chromosome Location	chr4:143485179-143485180
allele	G/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	TBP	chr4:143484782-143485531	GM12878	blood:	n/a	n/a
2	EP300	chr4:143484771-143485499	GM12878	blood:	n/a	n/a
3	CHD2	chr4:143484957-143485358	GM12878	blood:	n/a	n/a
4	IKZF1	chr4:143485042-143485242	GM12878	blood:	n/a	n/a
5	EBF1	chr4:143484841-143485636	GM12878	blood:	n/a	chr4:143485339-143485350
6	STAT3	chr4:143485175-143485368	GM12878	blood:	n/a	n/a
7	JUND	chr4:143484674-143485272	SK-N-SH	brain:	n/a	chr4:143484985-143484996
8	SIN3A	chr4:143485169-143485260	GM12878	blood:	n/a	n/a
9	FOSL1	chr4:143484722-143485313	HCT-116	colon:	n/a	n/a
10	CUX1	chr4:143485092-143485466	GM12878	blood:	n/a	n/a
11	EP300	chr4:143484933-143485407	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:143475822..143478119-chr4:143482410..143485244,3	MCF-7	breast:
2	chr4:143483510..143485558-chr4:143494452..143496011,2	MCF-7	breast:
3	chr4:143478683..143482173-chr4:143482213..143486011,3	MCF-7	breast:
4	chr4:143391421..143397876-chr4:143484529..143495051,12	MCF-7	breast:
5	chr4:143473623..143475385-chr4:143483705..143485634,2	MCF-7	breast:

Variant related genes	Relation type
INPP4B	TF binding region
ENSG00000249806	TF binding region
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10008043	1.00[AMR][1000 genomes]
rs10013894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10031364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6837769	1.00[AMR][1000 genomes]
rs9996162	0.89[AFR][1000 genomes]
rs9999924	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143472600-143486800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:143475600-143488000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143477800-143487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:143478000-143486600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:143478000-143486800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:143478200-143486000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:143478800-143488000	Weak transcription	Fetal Intestine Large	intestine
8	chr4:143479200-143487600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:143479200-143488400	Weak transcription	Pancreas	Pancrea
10	chr4:143480200-143487000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:143480600-143487800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:143481200-143486000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:143481400-143486000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:143481400-143488400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:143481600-143488400	Weak transcription	Fetal Lung	lung
16	chr4:143481600-143488600	Weak transcription	Osteobl	bone
17	chr4:143482800-143486200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:143482800-143486800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:143483000-143486400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:143483200-143485600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:143483200-143486600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:143483200-143486800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:143483400-143485200	Enhancers	Thymus	Thymus
24	chr4:143483400-143486200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr4:143483600-143485200	Enhancers	Fetal Thymus	thymus
26	chr4:143483600-143486600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr4:143484200-143489000	Weak transcription	Fetal Heart	heart
28	chr4:143484400-143485600	Enhancers	HMEC	breast
29	chr4:143484600-143485200	Enhancers	NHEK	skin
30	chr4:143484800-143485200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:143484800-143485200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr4:143484800-143485200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:143484800-143485200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:143485000-143485200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:143485000-143485400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:143485000-143485400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:143485000-143485600	Enhancers	HSMM	muscle

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