Variant report

Variant	rs7621678
Chromosome Location	chr3:137832350-137832351
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	TEAD4	chr3:137832182-137832592	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr3:137832300-137832450	AG09309	skin:	n/a	n/a
3	CTCF	chr3:137832280-137832430	HMEC	breast:	n/a	n/a
4	CTCF	chr3:137832220-137832370	RPTEC	kidney:	n/a	n/a
5	SMC3	chr3:137832213-137832408	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr3:137832280-137832430	Caco-2	colon:	n/a	n/a
7	NFIC	chr3:137832175-137832611	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr3:137832335-137832361	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr3:137832220-137832370	AG10803	skin:	n/a	n/a
10	STAT3	chr3:137832261-137832439	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr3:137832300-137832450	HRPEpiC	eye:	n/a	n/a
12	POLR2A	chr3:137832331-137832573	MCF10A-Er-Src	breast:	n/a	n/a
13	CTCF	chr3:137832200-137832350	RPTEC	kidney:	n/a	n/a
14	CTCF	chr3:137832300-137832450	HCFaa	heart:	n/a	n/a
15	CTCF	chr3:137832280-137832430	AG04449	skin:	n/a	n/a
16	CTCF	chr3:137832343-137832386	Hela-S3	cervix:	n/a	n/a
17	FOS	chr3:137832243-137832483	MCF10A-Er-Src	breast:	n/a	n/a
18	NFIC	chr3:137832036-137832646	ECC-1	luminal epithelium:	n/a	n/a
19	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]
rs6439786	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]
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	chr3:137814200-137832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:137814200-137833200	Weak transcription	HUVEC	blood vessel
11	chr3:137816800-137833000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:137821000-137833200	Weak transcription	Fetal Intestine Small	intestine
13	chr3:137821600-137833000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:137822200-137832400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:137822400-137833200	Weak transcription	Brain Anterior Caudate	brain
16	chr3:137822600-137832400	Weak transcription	Esophagus	oesophagus
17	chr3:137822600-137833000	Weak transcription	HSMMtube	muscle
18	chr3:137822600-137833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:137822800-137833000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:137822800-137833200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:137822800-137833200	Weak transcription	Fetal Brain Female	brain
22	chr3:137823000-137832400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:137823000-137833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:137823000-137833200	Weak transcription	Lung	lung
25	chr3:137823000-137833400	Weak transcription	Gastric	stomach
26	chr3:137823200-137832400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:137823200-137832400	Weak transcription	Fetal Lung	lung
28	chr3:137823200-137833200	Weak transcription	Pancreas	Pancrea
29	chr3:137823200-137833200	Weak transcription	Spleen	Spleen
30	chr3:137823600-137833200	Weak transcription	Right Ventricle	heart
31	chr3:137827800-137832400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:137830400-137833000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:137830400-137833000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:137830800-137832400	Weak transcription	Fetal Stomach	stomach
35	chr3:137831200-137832400	Enhancers	Adipose Nuclei	Adipose
36	chr3:137831200-137832400	Enhancers	Osteobl	bone
37	chr3:137831200-137833000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:137831200-137833000	Enhancers	NHLF	lung
39	chr3:137831200-137833400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:137831400-137832400	Weak transcription	Fetal Muscle Leg	muscle
41	chr3:137831400-137833000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:137831400-137833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:137831600-137833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:137831600-137833000	Enhancers	HMEC	breast
45	chr3:137831600-137833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:137831800-137833000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:137831800-137833000	Enhancers	Fetal Heart	heart
48	chr3:137831800-137833000	Enhancers	NHDF-Ad	bronchial
49	chr3:137832000-137832400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:137832000-137832400	Enhancers	Small Intestine	intestine

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