Variant report

Variant	rs6789446
Chromosome Location	chr3:191046015-191046016
allele	A/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	chr3:191045952-191047725	PFSK-1	brain:	n/a	n/a
2	NR2F2	chr3:191045930-191047215	K562	blood:	n/a	n/a
3	GATA1	chr3:191045652-191047550	PBDE	blood:	n/a	chr3:191045713-191045730
4	MAZ	chr3:191046005-191048601	K562	blood:	n/a	chr3:191046350-191046360
5	POLR2A	chr3:191045994-191048586	K562	blood:	n/a	n/a
6	CHD2	chr3:191045976-191047991	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191045177..191046733-chr3:191083021..191085089,2	K562	blood:

Variant related genes	Relation type
CCDC50	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12636442	0.85[EUR][1000 genomes]
rs12636482	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16866491	0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs293799	0.86[CHB][hapmap]
rs3796221	0.85[EUR][1000 genomes]
rs3796222	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56772293	0.85[EUR][1000 genomes]
rs61177977	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73888563	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv878101	chr3:190891939-191059322	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv1851611	chr3:191028147-191073560	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv4169	chr3:191036298-191063465	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191043600-191046200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:191044600-191046400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:191045200-191046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:191045400-191046400	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:191045400-191046400	Enhancers	Fetal Brain Male	brain
6	chr3:191045400-191046400	Enhancers	NHLF	lung
7	chr3:191045400-191046600	Enhancers	HUVEC	blood vessel
8	chr3:191045600-191046200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:191045600-191046200	Weak transcription	Ovary	ovary
10	chr3:191045600-191046600	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:191045800-191046200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr3:191045800-191046200	Enhancers	Fetal Brain Female	brain
13	chr3:191045800-191046400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:191045800-191046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:191045800-191046600	Flanking Active TSS	HepG2	liver
16	chr3:191046000-191046200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:191046000-191046200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr3:191046000-191046200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr3:191046000-191046200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:191046000-191046200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:191046000-191046200	Enhancers	Brain Hippocampus Middle	brain
22	chr3:191046000-191046200	Enhancers	Fetal Kidney	kidney
23	chr3:191046000-191046200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:191046000-191046200	Enhancers	Hela-S3	cervix
25	chr3:191046000-191046400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:191046000-191046400	Enhancers	Primary T cells from cord blood	blood
27	chr3:191046000-191046400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:191046000-191046400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:191046000-191046400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr3:191046000-191046400	Enhancers	Fetal Lung	lung
31	chr3:191046000-191046400	Enhancers	GM12878-XiMat	blood
32	chr3:191046000-191046400	Enhancers	NHDF-Ad	bronchial
33	chr3:191046000-191046600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:191046000-191046600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:191046000-191046600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:191046000-191046600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:191046000-191046600	Enhancers	Adipose Nuclei	Adipose
38	chr3:191046000-191046600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:191046000-191046600	Enhancers	Fetal Intestine Small	intestine
40	chr3:191046000-191046600	Enhancers	Fetal Thymus	thymus
41	chr3:191046000-191046600	Enhancers	Left Ventricle	heart
42	chr3:191046000-191046600	Enhancers	K562	blood
43	chr3:191046000-191046800	Enhancers	Spleen	Spleen

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