Variant report

Variant	rs6439786
Chromosome Location	chr3:137832617-137832618
allele	C/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	POLR2A	chr3:137832404-137832628	H1-hESC	embryonic stem cell:	n/a	n/a
2	NFIC	chr3:137832036-137832646	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr3:137831824-137832669	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
DZIP1L	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16847839	1.00[AMR][1000 genomes]
rs16847860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6768849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6769030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6786304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7621678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7639582	0.85[AFR][1000 genomes]
rs876013	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:137803200-137833200	Weak transcription	Placenta	Placenta
4	chr3:137811800-137833400	Weak transcription	Fetal Brain Male	brain
5	chr3:137812600-137833200	Weak transcription	Brain Angular Gyrus	brain
6	chr3:137813800-137833000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:137814000-137833000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:137814000-137833600	Weak transcription	Liver	Liver
9	chr3:137814200-137833200	Weak transcription	HUVEC	blood vessel
10	chr3:137816800-137833000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:137821000-137833200	Weak transcription	Fetal Intestine Small	intestine
12	chr3:137821600-137833000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:137822400-137833200	Weak transcription	Brain Anterior Caudate	brain
14	chr3:137822600-137833000	Weak transcription	HSMMtube	muscle
15	chr3:137822600-137833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:137822800-137833000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:137822800-137833200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:137822800-137833200	Weak transcription	Fetal Brain Female	brain
19	chr3:137823000-137833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:137823000-137833200	Weak transcription	Lung	lung
21	chr3:137823000-137833400	Weak transcription	Gastric	stomach
22	chr3:137823200-137833200	Weak transcription	Pancreas	Pancrea
23	chr3:137823200-137833200	Weak transcription	Spleen	Spleen
24	chr3:137823600-137833200	Weak transcription	Right Ventricle	heart
25	chr3:137830400-137833000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:137830400-137833000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:137831200-137833000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:137831200-137833000	Enhancers	NHLF	lung
29	chr3:137831200-137833400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:137831400-137833000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:137831400-137833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:137831600-137833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:137831600-137833000	Enhancers	HMEC	breast
34	chr3:137831600-137833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:137831800-137833000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:137831800-137833000	Enhancers	Fetal Heart	heart
37	chr3:137831800-137833000	Enhancers	NHDF-Ad	bronchial
38	chr3:137832000-137832800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:137832000-137833000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:137832000-137833000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:137832000-137833000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:137832000-137833000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:137832000-137833000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:137832000-137833000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:137832000-137833200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr3:137832000-137833200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:137832000-137833200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:137832000-137833200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:137832000-137833200	Enhancers	Brain Germinal Matrix	brain
50	chr3:137832000-137833200	Enhancers	Brain Hippocampus Middle	brain

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