Variant report

Variant	rs11917468
Chromosome Location	chr3:137787173-137787174
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	CTCF	chr3:137787160-137787310	AoAF	blood vessel:	n/a	n/a
2	SMC3	chr3:137787171-137788345	SK-N-SH	brain:	n/a	chr3:137787599-137787613 chr3:137787470-137787478 chr3:137787599-137787606
3	CTCF	chr3:137787100-137787250	GM12869	blood:	n/a	n/a
4	CTCF	chr3:137787073-137788178	SK-N-SH	brain:	n/a	chr3:137787598-137787614 chr3:137787600-137787609 chr3:137787597-137787615 chr3:137787599-137787620
5	CTCF	chr3:137787100-137787250	NHEK	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:137781336..137783358-chr3:137787171..137788980,2	MCF-7	breast:
2	chr3:137786807..137788879-chr3:137836537..137838505,22	MCF-7	breast:

Variant related genes	Relation type
DZIP1L	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11921619	0.86[ASW][hapmap];1.00[MEX][hapmap]
rs16847931	1.00[MEX][hapmap]
rs6789862	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1008563	chr3:137776151-137801394	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1002136	chr3:137776151-137806500	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv519971	chr3:137782655-137801213	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv522591	chr3:137782655-137801213	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137744400-137792000	Weak transcription	Fetal Kidney	kidney
2	chr3:137763000-137797600	Weak transcription	Hela-S3	cervix
3	chr3:137767200-137791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:137768200-137787600	Weak transcription	A549	lung
5	chr3:137772800-137792200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:137777800-137790000	Weak transcription	Brain Germinal Matrix	brain
7	chr3:137778200-137800600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:137778400-137787400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:137778600-137787600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:137778800-137800400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:137779200-137792400	Strong transcription	Fetal Stomach	stomach
12	chr3:137779600-137787600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:137779800-137787400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:137779800-137787600	Strong transcription	Adipose Nuclei	Adipose
15	chr3:137780000-137787200	Strong transcription	Aorta	Aorta
16	chr3:137780000-137792600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:137780000-137792600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:137780000-137797600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
20	chr3:137780200-137787600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:137780400-137787200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:137780400-137787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:137780400-137787600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:137780400-137792400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr3:137780600-137787200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:137780600-137787400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:137780600-137788000	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:137780600-137791600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
30	chr3:137780800-137800600	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:137781200-137787600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:137781400-137796600	Weak transcription	NHEK	skin
34	chr3:137781800-137787200	Strong transcription	Lung	lung
35	chr3:137781800-137791000	Strong transcription	NHLF	lung
36	chr3:137781800-137796200	Weak transcription	Fetal Heart	heart
37	chr3:137782000-137787400	Strong transcription	NH-A	brain
38	chr3:137782000-137787800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr3:137782000-137789800	Strong transcription	HSMM	muscle
40	chr3:137782000-137790600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:137782000-137790800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:137782000-137791400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:137782200-137787200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:137782200-137787600	Strong transcription	Osteobl	bone
45	chr3:137782200-137791200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:137782400-137787200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:137782400-137794600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr3:137782600-137800600	Weak transcription	Placenta	Placenta
49	chr3:137783000-137788000	Enhancers	Stomach Mucosa	stomach
50	chr3:137783000-137802000	Weak transcription	Fetal Brain Female	brain

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