Variant report

Variant	rs61177977
Chromosome Location	chr3:191052761-191052762
allele	A/C
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	chr3:191051764-191053711	PFSK-1	brain:	n/a	n/a
2	STAT3	chr3:191052647-191052833	MCF10A-Er-Src	breast:	n/a	chr3:191052722-191052729
3	RELA	chr3:191051794-191052835	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191049478..191053328-chr3:191074760..191077632,3	K562	blood:
2	chr3:191046891..191049504-chr3:191051045..191053812,2	MCF-7	breast:

Variant related genes	Relation type
UTS2B	TF binding region
ENSG00000188958	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12636442	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12636482	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866491	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2018996	0.99[ASN][1000 genomes]
rs293799	0.95[ASN][1000 genomes]
rs293843	0.84[ASN][1000 genomes]
rs293847	0.82[ASN][1000 genomes]
rs297370	0.86[ASN][1000 genomes]
rs366693	0.86[ASN][1000 genomes]
rs3796221	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3796222	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs485788	0.87[ASN][1000 genomes]
rs510014	0.86[ASN][1000 genomes]
rs56772293	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574206	0.90[ASN][1000 genomes]
rs58266557	0.97[ASN][1000 genomes]
rs6789446	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs695879	0.82[ASN][1000 genomes]
rs73888563	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191049000-191058600	Weak transcription	Left Ventricle	heart
2	chr3:191049200-191060600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:191049400-191057600	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:191049800-191061600	Weak transcription	HSMMtube	muscle
5	chr3:191050000-191053200	Enhancers	Primary B cells from cord blood	blood
6	chr3:191050000-191053200	Enhancers	K562	blood
7	chr3:191050000-191055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:191050000-191056400	Weak transcription	Fetal Intestine Small	intestine
9	chr3:191050000-191057200	Weak transcription	Fetal Lung	lung
10	chr3:191050200-191053400	Enhancers	Liver	Liver
11	chr3:191050200-191054400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:191050200-191054800	Enhancers	HepG2	liver
13	chr3:191050200-191055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:191050200-191060200	Weak transcription	Psoas Muscle	Psoas
15	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:191050400-191054600	Weak transcription	Osteobl	bone
17	chr3:191050600-191060400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:191050800-191057200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:191050800-191057800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:191051000-191053200	Enhancers	Adipose Nuclei	Adipose
21	chr3:191051000-191055400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:191051000-191055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:191051000-191055800	Weak transcription	HMEC	breast
24	chr3:191051000-191056000	Weak transcription	HSMM	muscle
25	chr3:191051000-191056000	Enhancers	HUVEC	blood vessel
26	chr3:191051200-191060200	Weak transcription	Brain Substantia Nigra	brain
27	chr3:191051400-191053600	Weak transcription	Small Intestine	intestine
28	chr3:191051400-191054600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:191051400-191054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:191051400-191055400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:191051400-191055800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:191051400-191056000	Weak transcription	Fetal Heart	heart
33	chr3:191051400-191056000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:191051400-191057200	Weak transcription	Aorta	Aorta
35	chr3:191051400-191057400	Weak transcription	Ovary	ovary
36	chr3:191051400-191058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:191051400-191059400	Weak transcription	Right Atrium	heart
38	chr3:191051400-191060000	Weak transcription	Brain Germinal Matrix	brain
39	chr3:191051400-191060200	Weak transcription	Brain Anterior Caudate	brain
40	chr3:191051400-191060200	Weak transcription	Right Ventricle	heart
41	chr3:191051600-191054400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:191051600-191057000	Weak transcription	Fetal Brain Female	brain
43	chr3:191051800-191053000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr3:191052000-191053200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:191052000-191053200	Enhancers	NHLF	lung
46	chr3:191052000-191054000	Enhancers	NH-A	brain
47	chr3:191052000-191054200	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:191052200-191052800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:191052200-191053200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:191052200-191053400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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