Variant report

Variant	rs34166957
Chromosome Location	chr3:50605877-50605878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:50604885-50607448	K562	blood:	n/a	n/a
2	POLR2A	chr3:50604994-50605882	HepG2	liver:	n/a	n/a
3	MAZ	chr3:50604459-50605969	IMR90	lung:	n/a	chr3:50605204-50605214

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50605679..50607694-chr6:90346835..90349653,2	MCF-7	breast:
2	chr3:50603678..50606532-chr3:50606738..50608762,2	K562	blood:
3	chr3:50402920..50405878-chr3:50604369..50606579,2	K562	blood:
4	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
5	chr3:50601756..50613871-chr3:50647072..50654542,28	K562	blood:
6	chr3:50603678..50606671-chr3:50607262..50609999,2	K562	blood:

No data

Variant related genes	Relation type
C3orf18	TF binding region
HEMK1	TF binding region
ENSG00000114737	Chromatin interaction
ENSG00000088543	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000271858	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000083099	Chromatin interaction
ENSG00000007402	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs419160	1.00[LWK][hapmap]
rs743855	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases
11	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr3:50604000-50606000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr3:50604000-50606400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr3:50604200-50606200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:50604200-50606400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr3:50604200-50606600	Flanking Active TSS	Dnd41	blood
6	chr3:50604200-50608400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:50604400-50606800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:50604400-50607600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr3:50604400-50607600	Active TSS	Fetal Kidney	kidney
10	chr3:50604400-50608000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:50604600-50606000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr3:50604600-50606400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr3:50604600-50606600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr3:50604600-50607600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:50604600-50607600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:50604600-50607800	Active TSS	Aorta	Aorta
17	chr3:50604600-50607800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr3:50604600-50607800	Active TSS	Psoas Muscle	Psoas
19	chr3:50604600-50608000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:50604600-50608000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:50604800-50606200	Active TSS	Fetal Brain Female	brain
22	chr3:50604800-50606400	Enhancers	Fetal Brain Male	brain
23	chr3:50604800-50607400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr3:50604800-50607600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:50604800-50607600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr3:50604800-50607600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:50604800-50607600	Active TSS	Esophagus	oesophagus
28	chr3:50604800-50607600	Active TSS	HSMMtube	muscle
29	chr3:50604800-50607800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:50604800-50607800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr3:50604800-50607800	Active TSS	Ovary	ovary
32	chr3:50605000-50607400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:50605000-50607600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:50605000-50607600	Active TSS	HSMM	muscle
35	chr3:50605000-50607800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:50605000-50607800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr3:50605000-50608000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:50605000-50608200	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:50605000-50608200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr3:50605200-50606000	Flanking Active TSS	Hela-S3	cervix
41	chr3:50605200-50606200	Enhancers	Gastric	stomach
42	chr3:50605200-50606200	Weak transcription	Small Intestine	intestine
43	chr3:50605200-50606200	Enhancers	HMEC	breast
44	chr3:50605200-50606400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr3:50605200-50606600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr3:50605200-50606600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:50605200-50606600	Enhancers	Spleen	Spleen
48	chr3:50605200-50607600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr3:50605200-50607800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr3:50605400-50606000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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