Variant report

Variant	rs574206
Chromosome Location	chr3:191077914-191077915
allele	C/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	STAT3	chr3:191077760-191077960	MCF10A-Er-Src	breast:	n/a	n/a
2	IRF4	chr3:191077719-191078197	GM12878	blood:	n/a	n/a
3	MXI1	chr3:191077911-191077956	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:191077383-191078634	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
CCDC50	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1066867	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12636442	0.93[ASN][1000 genomes]
rs12636482	0.93[ASN][1000 genomes]
rs167150	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16866491	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs169860	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs176824	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs188450	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2018996	0.89[ASN][1000 genomes]
rs293799	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs293843	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs293845	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs293847	0.82[CEU][hapmap];0.94[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs293855	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs293860	0.83[EUR][1000 genomes]
rs297370	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs366693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3796222	0.89[ASN][1000 genomes]
rs485788	1.00[CEU][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs492470	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs510014	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs523100	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56772293	0.93[ASN][1000 genomes]
rs579405	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58266557	0.91[ASN][1000 genomes]
rs61177977	0.90[ASN][1000 genomes]
rs695879	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73888563	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats 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
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv508266	chr3:191064212-191083637	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1808657	chr3:191064330-191081793	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv878106	chr3:191064528-191081344	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1823184	chr3:191064803-191082303	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1848120	chr3:191064803-191082303	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv592852	chr3:191073228-191093310	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv592853	chr3:191073228-191094985	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv10373	chr3:191076025-191078185	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191068800-191078800	Weak transcription	Fetal Brain Male	brain
2	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:191071000-191088400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:191071200-191078800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:191071200-191078800	Weak transcription	Lung	lung
6	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
7	chr3:191071400-191078400	Weak transcription	Fetal Intestine Small	intestine
8	chr3:191071400-191078800	Weak transcription	Gastric	stomach
9	chr3:191071400-191078800	Weak transcription	Pancreas	Pancrea
10	chr3:191071400-191078800	Weak transcription	Spleen	Spleen
11	chr3:191071400-191094200	Weak transcription	Small Intestine	intestine
12	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:191073200-191078000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:191073400-191079200	Weak transcription	Fetal Thymus	thymus
17	chr3:191073600-191083000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:191073600-191090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:191073800-191079000	Weak transcription	Brain Angular Gyrus	brain
20	chr3:191074200-191078800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:191074400-191078600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:191074400-191079200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr3:191074600-191080400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:191074600-191092800	Weak transcription	Esophagus	oesophagus
25	chr3:191074600-191094000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:191074800-191078400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:191074800-191078800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:191074800-191078800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:191074800-191079200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:191074800-191080000	Strong transcription	HepG2	liver
31	chr3:191074800-191081800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr3:191074800-191083000	Strong transcription	Primary B cells from cord blood	blood
33	chr3:191074800-191085800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:191074800-191094200	Weak transcription	A549	lung
35	chr3:191075000-191079000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:191075000-191082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:191075000-191097400	Weak transcription	Thymus	Thymus
38	chr3:191075200-191078800	Weak transcription	Ovary	ovary
39	chr3:191075200-191078800	Strong transcription	NHDF-Ad	bronchial
40	chr3:191075200-191079600	Weak transcription	Stomach Mucosa	stomach
41	chr3:191075200-191081600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:191075200-191081600	Strong transcription	NHLF	lung
43	chr3:191075200-191084200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:191075400-191078000	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:191075400-191079200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:191075400-191079400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:191075400-191081800	Strong transcription	HSMM	muscle
48	chr3:191075400-191082000	Strong transcription	Liver	Liver
49	chr3:191075400-191082800	Strong transcription	Fetal Brain Female	brain
50	chr3:191075600-191080200	Strong transcription	Brain Germinal Matrix	brain

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