Variant report

Variant	rs11942731
Chromosome Location	chr4:143486962-143486963
allele	A/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	TBP	chr4:143486870-143487357	GM12878	blood:	n/a	n/a
2	EBF1	chr4:143486800-143487193	GM12878	blood:	n/a	chr4:143486844-143486855
3	SPI1	chr4:143486878-143487201	GM12878	blood:	n/a	n/a
4	EP300	chr4:143486877-143487287	GM12878	blood:	n/a	n/a
5	STAT3	chr4:143486838-143486963	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr4:143486947-143487304	GM12878	blood:	n/a	n/a
7	SPI1	chr4:143486915-143487246	GM12891	blood:	n/a	n/a
8	EP300	chr4:143486931-143487226	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143391421..143397876-chr4:143484529..143495051,12	MCF-7	breast:

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11943397	0.81[YRI][hapmap]
rs11944455	0.82[YRI][hapmap]
rs1364925	0.81[YRI][hapmap]
rs1443191	0.86[YRI][hapmap]
rs1473222	0.82[JPT][hapmap]
rs2017146	0.81[YRI][hapmap]
rs2120158	0.81[YRI][hapmap]
rs2165820	0.82[YRI][hapmap]
rs2874870	0.95[CEU][hapmap];0.81[YRI][hapmap]
rs2874871	0.83[YRI][hapmap]
rs4975311	0.82[JPT][hapmap]
rs979194	0.86[YRI][hapmap]

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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143475600-143488000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143477800-143487000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143478800-143488000	Weak transcription	Fetal Intestine Large	intestine
4	chr4:143479200-143487600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:143479200-143488400	Weak transcription	Pancreas	Pancrea
6	chr4:143480200-143487000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:143480600-143487800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:143481400-143488400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:143481600-143488400	Weak transcription	Fetal Lung	lung
10	chr4:143481600-143488600	Weak transcription	Osteobl	bone
11	chr4:143484200-143489000	Weak transcription	Fetal Heart	heart
12	chr4:143485200-143488400	Weak transcription	Thymus	Thymus
13	chr4:143485200-143489200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:143485400-143488400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:143486400-143487000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:143486400-143487400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:143486600-143487000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr4:143486600-143487000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr4:143486600-143487200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:143486600-143487200	Enhancers	NHDF-Ad	bronchial
21	chr4:143486800-143487000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:143486800-143487000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:143486800-143487000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr4:143486800-143487000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:143486800-143487000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr4:143486800-143487000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:143486800-143487200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr4:143486800-143487200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:143486800-143487200	Active TSS	HMEC	breast
30	chr4:143486800-143487400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:143486800-143487400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:143486800-143487600	Flanking Active TSS	NHEK	skin
33	chr4:143486800-143487800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr4:143486800-143487800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:143486800-143488400	Active TSS	Colonic Mucosa	Colon
36	chr4:143486800-143489600	Active TSS	Primary T cells fromperipheralblood	blood
37	chr4:143486800-143489800	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr4:143486800-143489800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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