Variant report

Variant	rs73835234
Chromosome Location	chr3:50391501-50391502
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	POLR2A	chr3:50390202-50392343	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr3:50390181-50391924	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:50390114-50391705	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr3:50390295-50392840	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:50391489-50391874	K562	blood:	n/a	n/a
6	POLR2A	chr3:50390576-50391773	GM12891	blood:	n/a	n/a
7	POLR2A	chr3:50391453-50392197	K562	blood:	n/a	n/a
8	POLR2A	chr3:50390217-50392113	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50388707..50391851-chr3:50462980..50465822,3	MCF-7	breast:
2	chr3:50373346..50376603-chr3:50387024..50392661,8	MCF-7	breast:

Variant related genes	Relation type
NPRL2	TF binding region
ENSG00000068028	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11558285	1.00[AMR][1000 genomes]
rs55833676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56120139	1.00[AMR][1000 genomes]
rs56737163	1.00[AMR][1000 genomes]
rs57791592	1.00[AMR][1000 genomes]
rs59909173	1.00[AMR][1000 genomes]
rs61142614	1.00[AMR][1000 genomes]
rs73835230	1.00[AMR][1000 genomes]
rs73835506	1.00[AMR][1000 genomes]
rs73835508	1.00[AMR][1000 genomes]
rs73835540	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
12	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
13	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
14	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
17	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
18	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
19	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
20	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50389000-50395000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:50389200-50391600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:50389200-50391600	Weak transcription	Small Intestine	intestine
4	chr3:50389200-50393400	Weak transcription	Fetal Kidney	kidney
5	chr3:50389200-50394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:50389400-50391800	Weak transcription	Hela-S3	cervix
7	chr3:50389400-50392200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:50389400-50392400	Strong transcription	Fetal Intestine Small	intestine
9	chr3:50389400-50392600	Weak transcription	Fetal Heart	heart
10	chr3:50389400-50392800	Weak transcription	Fetal Brain Male	brain
11	chr3:50389400-50392800	Strong transcription	Fetal Muscle Leg	muscle
12	chr3:50389400-50393000	Strong transcription	Fetal Stomach	stomach
13	chr3:50389400-50393200	Weak transcription	NHDF-Ad	bronchial
14	chr3:50389400-50393200	Strong transcription	NHLF	lung
15	chr3:50389400-50393400	Strong transcription	NHEK	skin
16	chr3:50389600-50391800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:50389600-50392200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:50389600-50392400	Weak transcription	Primary B cells from cord blood	blood
19	chr3:50389600-50392400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr3:50389600-50392800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:50389600-50393000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:50389600-50393200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:50389600-50393400	Strong transcription	Fetal Thymus	thymus
24	chr3:50389800-50392600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr3:50390000-50392400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr3:50390000-50393000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:50390000-50393000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr3:50390000-50393200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr3:50390000-50394000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr3:50390200-50391600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:50390200-50391800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:50390200-50392600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:50390200-50392800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr3:50390200-50392800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:50390200-50392800	Strong transcription	Spleen	Spleen
36	chr3:50390200-50392800	Strong transcription	HSMMtube	muscle
37	chr3:50390200-50393000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:50390200-50393000	Strong transcription	Colon Smooth Muscle	Colon
39	chr3:50390200-50393000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:50390200-50393000	Strong transcription	Fetal Intestine Large	intestine
41	chr3:50390200-50393000	Strong transcription	HUVEC	blood vessel
42	chr3:50390200-50393200	Strong transcription	Brain Angular Gyrus	brain
43	chr3:50390200-50393200	Strong transcription	GM12878-XiMat	blood
44	chr3:50390200-50393400	Genic enhancers	Liver	Liver
45	chr3:50390200-50393800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:50390400-50391600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:50390400-50391800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:50390400-50392600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:50390400-50392800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr3:50390400-50392800	Strong transcription	Primary T cells from cord blood	blood

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