Variant report

Variant	rs67340660
Chromosome Location	chr3:53917416-53917417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:53915666-53918109	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:53915493-53917518	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:53917074-53917538	K562	blood:	n/a	n/a
4	POLR2A	chr3:53915492-53917996	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr3:53915665-53917807	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:53915217-53917615	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:53914423-53917935	GM12891	blood:	n/a	n/a
8	POLR2A	chr3:53914613-53918608	IMR90	lung:	n/a	n/a
9	POLR2A	chr3:53915500-53918115	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:53914533-53917912	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:53916006-53918522	A549	lung:	n/a	n/a
12	POLR2A	chr3:53915511-53917503	GM12891	blood:	n/a	n/a
13	POLR2A	chr3:53916991-53917517	GM12892	blood:	n/a	n/a
14	POLR2A	chr3:53917037-53917470	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:53916984-53917537	GM12892	blood:	n/a	n/a
16	POLR2A	chr3:53915448-53918024	GM12892	blood:	n/a	n/a
17	POLR2A	chr3:53914664-53917943	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:53917074-53917520	GM12891	blood:	n/a	n/a
19	POLR2A	chr3:53915599-53918118	K562	blood:	n/a	n/a
20	POLR2A	chr3:53916779-53917528	GM12892	blood:	n/a	n/a
21	POLR2A	chr3:53915491-53918045	PBDE	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53913333..53919757-chr3:53920203..53928086,26	K562	blood:
2	chr3:53914775..53921125-chr3:53923203..53927129,12	MCF-7	breast:
3	chr3:53913820..53918433-chr3:53924406..53927799,6	MCF-7	breast:

No data

Variant related genes	Relation type
ACTR8	TF binding region
ENSG00000222888	TF binding region
ENSG00000113811	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13071560	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13073855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13088816	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13096326	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2232338	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2232341	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34310576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34431816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34443284	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34549821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34938855	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35222185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36102758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62619200	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66535155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66583280	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66720724	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66818866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71617207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv876804	chr3:53833509-53934171	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1010575	chr3:53846741-53934781	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1006990	chr3:53849510-54285212	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv997771	chr3:53852695-53926635	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1002141	chr3:53858541-53934781	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1014752	chr3:53912429-54123246	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53916200-53919400	Weak transcription	Spleen	Spleen
2	chr3:53916200-53924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:53916200-53924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:53916600-53917600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:53916600-53917600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:53916600-53917600	Weak transcription	Esophagus	oesophagus
7	chr3:53916600-53917600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:53916600-53917600	Weak transcription	Fetal Thymus	thymus
9	chr3:53916600-53917600	Weak transcription	Left Ventricle	heart
10	chr3:53916600-53917800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:53916600-53917800	Weak transcription	Thymus	Thymus
12	chr3:53916600-53917800	Weak transcription	HUVEC	blood vessel
13	chr3:53916600-53918000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:53916600-53918000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:53916600-53918000	Weak transcription	Gastric	stomach
16	chr3:53916600-53918200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:53916600-53918400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:53916600-53918400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:53916600-53918400	Weak transcription	Ovary	ovary
20	chr3:53916600-53918400	Weak transcription	HMEC	breast
21	chr3:53916600-53918600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:53916600-53918600	Weak transcription	Lung	lung
23	chr3:53916600-53918600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:53916600-53918600	Weak transcription	Right Ventricle	heart
25	chr3:53916600-53918800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:53916600-53918800	Weak transcription	Placenta	Placenta
27	chr3:53916600-53919200	Weak transcription	Colonic Mucosa	Colon
28	chr3:53916600-53919400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:53916600-53921000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:53916600-53921800	Strong transcription	HSMM	muscle
31	chr3:53916600-53922000	Weak transcription	K562	blood
32	chr3:53916600-53923400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:53916600-53924000	Weak transcription	Psoas Muscle	Psoas
34	chr3:53916600-53924000	Weak transcription	A549	lung
35	chr3:53916600-53924400	Weak transcription	Fetal Kidney	kidney
36	chr3:53916600-53924800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:53916600-53924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:53916600-53924800	Weak transcription	Aorta	Aorta
39	chr3:53916800-53917600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:53916800-53917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:53916800-53917600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr3:53916800-53917600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:53916800-53917600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:53916800-53917600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:53916800-53917600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:53916800-53917600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:53916800-53917600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:53916800-53917600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:53916800-53917800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:53916800-53917800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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