Variant report

Variant	rs72942070
Chromosome Location	chr3:112323872-112323873
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	TCF12	chr3:112323169-112324617	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr3:112323163-112324732	SK-N-SH	brain:	n/a	n/a
3	FOS	chr3:112323248-112324640	HUVEC	blood vessel:	n/a	n/a
4	TEAD4	chr3:112323294-112323950	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr3:112323217-112323885	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr3:112323258-112324540	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr3:112323321-112323898	HUVEC	blood vessel:	n/a	n/a
8	NFIC	chr3:112323280-112323912	SK-N-SH	brain:	n/a	n/a
9	MEF2A	chr3:112323336-112323946	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr3:112323174-112324796	SK-N-SH	brain:	n/a	chr3:112324784-112324795
11	JUND	chr3:112323219-112323934	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr3:112323239-112323909	SK-N-SH	brain:	n/a	n/a
13	REST	chr3:112323841-112324808	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr3:112323295-112323919	HUVEC	blood vessel:	n/a	n/a
15	RXRA	chr3:112323335-112323949	SK-N-SH	brain:	n/a	n/a
16	JUN	chr3:112323285-112324669	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr3:112323386-112324592	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112321970..112325392-chr3:112326276..112329430,4	K562	blood:

Variant related genes	Relation type
ENSG00000272761	TF binding region
ENSG00000091986	Chromatin interaction

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

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

rs_ID	r²[population]
rs11915549	1.00[EUR][1000 genomes]
rs11916086	1.00[EUR][1000 genomes]
rs11917366	1.00[EUR][1000 genomes]
rs11918463	1.00[EUR][1000 genomes]
rs11919852	1.00[EUR][1000 genomes]
rs11921634	1.00[EUR][1000 genomes]
rs11921697	1.00[EUR][1000 genomes]
rs11923569	1.00[EUR][1000 genomes]
rs11923995	1.00[EUR][1000 genomes]
rs16859654	1.00[EUR][1000 genomes]
rs56874152	1.00[EUR][1000 genomes]
rs58317173	1.00[EUR][1000 genomes]
rs59235825	1.00[EUR][1000 genomes]
rs59242272	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60293452	1.00[EUR][1000 genomes]
rs60556260	1.00[EUR][1000 genomes]
rs61735902	1.00[EUR][1000 genomes]
rs61738676	1.00[EUR][1000 genomes]
rs66698345	0.92[AFR][1000 genomes]
rs6780504	1.00[EUR][1000 genomes]
rs6780780	1.00[EUR][1000 genomes]
rs6799989	1.00[EUR][1000 genomes]
rs6805160	1.00[EUR][1000 genomes]
rs72948480	1.00[EUR][1000 genomes]
rs72948495	1.00[EUR][1000 genomes]
rs7617497	1.00[EUR][1000 genomes]
rs7624917	1.00[EUR][1000 genomes]

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	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
2	chr3:112281800-112325400	Weak transcription	Gastric	stomach
3	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
5	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:112298600-112325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:112298800-112335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:112300200-112331000	Weak transcription	Lung	lung
10	chr3:112300200-112334000	Weak transcription	Fetal Stomach	stomach
11	chr3:112302800-112324200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:112303800-112324200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:112305000-112324200	Weak transcription	Fetal Brain Male	brain
14	chr3:112305400-112324000	Weak transcription	Brain Anterior Caudate	brain
15	chr3:112305400-112330400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:112305600-112324200	Weak transcription	Fetal Kidney	kidney
17	chr3:112305800-112334800	Weak transcription	Aorta	Aorta
18	chr3:112307400-112329000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:112311600-112330600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:112311600-112331000	Weak transcription	Psoas Muscle	Psoas
21	chr3:112312400-112324200	Weak transcription	Ovary	ovary
22	chr3:112312400-112325200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:112312400-112326800	Weak transcription	Fetal Lung	lung
24	chr3:112312400-112331000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:112312600-112324200	Weak transcription	Brain Angular Gyrus	brain
26	chr3:112312600-112330400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:112312600-112346200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:112312600-112347200	Weak transcription	Fetal Intestine Large	intestine
29	chr3:112316000-112327400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:112316200-112342800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:112316400-112333600	Weak transcription	A549	lung
32	chr3:112316600-112337600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:112317000-112324200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:112317600-112328600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:112318000-112341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:112318200-112330600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:112318400-112324200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:112321400-112324200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:112321600-112324800	Genic enhancers	Osteobl	bone
40	chr3:112321800-112326400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:112322200-112337200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:112322600-112324000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:112322600-112324400	Genic enhancers	Adipose Nuclei	Adipose
44	chr3:112322600-112325400	Genic enhancers	HSMM	muscle
45	chr3:112322800-112329400	Strong transcription	Colon Smooth Muscle	Colon
46	chr3:112323000-112324400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:112323000-112324400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:112323000-112324600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:112323000-112324800	Genic enhancers	NHDF-Ad	bronchial
50	chr3:112323000-112325000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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