Variant report

Variant	rs7694736
Chromosome Location	chr4:56211835-56211836
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	MYC	chr4:56211614-56212556	MCF10A-Er-Src	breast:	n/a	chr4:56212202-56212213 chr4:56212201-56212214 chr4:56212204-56212213 chr4:56212202-56212213 chr4:56212202-56212213 chr4:56212201-56212214 chr4:56212202-56212212 chr4:56212203-56212212 chr4:56212201-56212211
2	HCFC1	chr4:56211714-56213354	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr4:56211410-56213318	SK-N-SH	brain:	n/a	chr4:56212204-56212213 chr4:56212202-56212211
4	GATA3	chr4:56211828-56212515	MCF-7	breast:	n/a	n/a
5	MXI1	chr4:56211751-56213595	IMR90	lung:	n/a	chr4:56212204-56212213 chr4:56212202-56212211
6	EP300	chr4:56211662-56212190	K562	blood:	n/a	n/a
7	POLR2A	chr4:56211814-56212988	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr4:56211773-56213364	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:
2	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
3	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
4	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
5	chr4:56211245..56214093-chr4:56502603..56505420,3	K562	blood:
6	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
7	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
8	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
9	chr4:56211622..56213741-chr4:56288738..56291622,2	MCF-7	breast:
10	chr4:56211498..56213604-chr4:56215998..56219144,5	MCF-7	breast:
11	chr4:56211096..56216124-chr4:56256262..56265067,20	K562	blood:
12	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:

Variant related genes	Relation type
SRD5A3	TF binding region
ENSG00000251111	Chromatin interaction
ENSG00000109255	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000249700	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58981335	1.00[AFR][1000 genomes]
rs59186730	1.00[AFR][1000 genomes]
rs6814943	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs73149706	1.00[AFR][1000 genomes]
rs73149708	1.00[AFR][1000 genomes]
rs73149712	1.00[AFR][1000 genomes]
rs73149715	1.00[AFR][1000 genomes]
rs7656431	0.96[AFR][1000 genomes]
rs7681974	0.91[AFR][1000 genomes]
rs7684048	0.82[YRI][hapmap]
rs7691585	0.86[AFR][1000 genomes]
rs7692737	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56209000-56212000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:56211200-56212000	Enhancers	Primary hematopoietic stem cells	blood
3	chr4:56211200-56212000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:56211200-56212000	Enhancers	Fetal Intestine Small	intestine
5	chr4:56211200-56212000	Enhancers	Stomach Mucosa	stomach
6	chr4:56211200-56212200	Flanking Active TSS	HepG2	liver
7	chr4:56211400-56212000	Enhancers	Liver	Liver
8	chr4:56211400-56212000	Enhancers	HUVEC	blood vessel
9	chr4:56211400-56212800	Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr4:56211400-56213800	Active TSS	Brain Anterior Caudate	brain
11	chr4:56211600-56213400	Active TSS	A549	lung
12	chr4:56211800-56212000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:56211800-56212000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:56211800-56212000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:56211800-56212000	Enhancers	Primary B cells from cord blood	blood
16	chr4:56211800-56212000	Enhancers	Primary T cells from cord blood	blood
17	chr4:56211800-56212000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:56211800-56212000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:56211800-56212000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:56211800-56212000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:56211800-56212000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:56211800-56212000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:56211800-56212000	Enhancers	Brain Angular Gyrus	brain
24	chr4:56211800-56212000	Enhancers	Fetal Kidney	kidney
25	chr4:56211800-56212000	Flanking Active TSS	GM12878-XiMat	blood
26	chr4:56211800-56212000	Enhancers	Osteobl	bone
27	chr4:56211800-56212200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:56211800-56212200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr4:56211800-56212200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:56211800-56212200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr4:56211800-56212200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr4:56211800-56212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:56211800-56212200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:56211800-56212200	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr4:56211800-56212200	Flanking Active TSS	Fetal Brain Female	brain
36	chr4:56211800-56212200	Flanking Active TSS	Fetal Heart	heart
37	chr4:56211800-56212200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:56211800-56212200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr4:56211800-56212200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr4:56211800-56212200	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr4:56211800-56212200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr4:56211800-56212200	Flanking Active TSS	NH-A	brain
43	chr4:56211800-56212400	Flanking Active TSS	Dnd41	blood
44	chr4:56211800-56213000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:56211800-56213000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr4:56211800-56213000	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr4:56211800-56213000	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr4:56211800-56213000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:56211800-56213000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr4:56211800-56213000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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