Variant report

Variant	rs2433324
Chromosome Location	chr4:95439956-95439957
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	CTCF	chr4:95439840-95439990	GM12872	blood:	n/a	n/a
2	CTCF	chr4:95439860-95440010	GM12864	blood:	n/a	n/a
3	CTCF	chr4:95439900-95440050	GM12864	blood:	n/a	n/a
4	CTCF	chr4:95439880-95440030	RPTEC	kidney:	n/a	n/a
5	CTCF	chr4:95439900-95440050	MCF-7	breast:	n/a	n/a
6	CTCF	chr4:95439860-95440010	HMEC	breast:	n/a	n/a
7	CTCF	chr4:95439860-95440010	GM06990	blood:	n/a	n/a
8	CTCF	chr4:95439880-95440030	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95438774..95443250-chr4:95444770..95449023,5	K562	blood:

Variant related genes	Relation type
PDLIM5	TF binding region
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1353044	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162346	0.85[CEU][hapmap]
rs2433317	0.84[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]
rs2433325	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2438142	0.84[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs2438143	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2438144	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2452559	0.87[ASN][1000 genomes]
rs2452560	0.87[ASN][1000 genomes]
rs2452561	0.85[ASN][1000 genomes]
rs2452562	0.87[ASN][1000 genomes]
rs2452564	0.87[ASN][1000 genomes]
rs2452565	0.89[CEU][hapmap];0.87[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2452566	0.90[ASN][1000 genomes]
rs2452567	0.87[EUR][1000 genomes]
rs2452568	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510778	0.84[CEU][hapmap]
rs2510785	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.98[ASN][1000 genomes]
rs2510786	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510787	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2510788	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510791	0.85[ASN][1000 genomes]
rs2510792	0.87[ASN][1000 genomes]
rs2510794	0.87[ASN][1000 genomes]
rs2510795	0.84[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]
rs2510802	0.81[CHD][hapmap];0.83[MEX][hapmap]
rs2577056	0.84[CEU][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:95400800-95440000	Weak transcription	Lung	lung
3	chr4:95415400-95440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:95421200-95440000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:95421600-95440000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:95429800-95440000	Weak transcription	Esophagus	oesophagus
8	chr4:95429800-95440000	Weak transcription	Ovary	ovary
9	chr4:95430000-95456200	Weak transcription	Small Intestine	intestine
10	chr4:95430600-95440000	Weak transcription	Right Ventricle	heart
11	chr4:95430600-95444000	Weak transcription	HSMMtube	muscle
12	chr4:95431200-95440000	Weak transcription	Pancreas	Pancrea
13	chr4:95435600-95440000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:95435800-95440200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr4:95435800-95444600	Enhancers	Fetal Heart	heart
16	chr4:95436200-95441600	Enhancers	Liver	Liver
17	chr4:95436400-95440000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:95436400-95447200	Enhancers	Colon Smooth Muscle	Colon
19	chr4:95436800-95447800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:95437200-95448400	Weak transcription	HSMM	muscle
21	chr4:95437400-95440000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:95437400-95445000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:95437600-95440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:95437600-95441000	Enhancers	A549	lung
25	chr4:95437600-95456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:95437800-95440000	Weak transcription	Right Atrium	heart
27	chr4:95437800-95440000	Enhancers	HUVEC	blood vessel
28	chr4:95437800-95440400	Enhancers	Osteobl	bone
29	chr4:95437800-95441200	Weak transcription	NHDF-Ad	bronchial
30	chr4:95437800-95448600	Weak transcription	NHEK	skin
31	chr4:95438000-95440000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:95438000-95440000	Weak transcription	Aorta	Aorta
33	chr4:95438000-95440000	Weak transcription	Left Ventricle	heart
34	chr4:95438000-95448400	Weak transcription	Fetal Intestine Large	intestine
35	chr4:95438200-95440400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:95438200-95440600	Weak transcription	Colonic Mucosa	Colon
37	chr4:95438200-95441200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:95438200-95442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:95438200-95448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:95438200-95454600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:95438400-95440000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:95438400-95440000	Weak transcription	Psoas Muscle	Psoas
43	chr4:95438400-95454800	Weak transcription	Hela-S3	cervix
44	chr4:95438600-95442600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr4:95438600-95445000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:95438800-95440000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:95438800-95440000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:95438800-95441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:95438800-95443800	Weak transcription	NHLF	lung
50	chr4:95438800-95444400	Weak transcription	HMEC	breast

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