Variant report

Variant	rs60236667
Chromosome Location	chr3:46734728-46734729
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:87350782..87351467-chr3:46734125..46734941,2	Hela-S3	cervix:
2	chr3:46733801..46735413-chr3:46924430..46926212,2	MCF-7	breast:
3	chr17:43393907..43394635-chr3:46734362..46735110,2	Hela-S3	cervix:
4	chr3:46722742..46724325-chr3:46733459..46735116,2	K562	blood:
5	chr3:46727378..46730139-chr3:46733383..46735627,3	MCF-7	breast:
6	chr3:46733350..46734890-chr3:46932280..46935238,2	MCF-7	breast:
7	chr3:46733050..46735013-chr3:46736523..46739104,3	K562	blood:
8	chr3:46733404..46735141-chr3:46748725..46750536,2	MCF-7	breast:
9	chr1:145382730..145383465-chr3:46734207..46734831,2	Hela-S3	cervix:
10	chr3:46733775..46736386-chr3:46933231..46935509,2	MCF-7	breast:
11	chr3:46734355..46735316-chr5:133512715..133513418,2	Hela-S3	cervix:
12	chr3:46729365..46731831-chr3:46732714..46735067,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113558	Chromatin interaction
ENSG00000260456	Chromatin interaction
ENSG00000160801	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000270006	Chromatin interaction
ENSG00000178038	Chromatin interaction
ENSG00000006062	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv516623	chr3:46680063-46852679	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
7	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	esv1804680	chr3:46704348-46869911	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv876742	chr3:46705369-46763839	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	nsv536555	chr3:46706571-46817963	Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Enhancers Active TSS 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	17 gene(s)	inside rSNPs	diseases
12	nsv536556	chr3:46706571-46849443	Genic enhancers Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv536557	chr3:46706571-46853434	Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv10268	chr3:46707169-46736718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
16	esv1797503	chr3:46708712-46760713	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv876743	chr3:46716523-46753577	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
18	nsv876744	chr3:46716523-46763839	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
19	nsv460525	chr3:46728659-46790397	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	nsv590179	chr3:46728659-46790397	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
21	esv1847964	chr3:46729757-46753976	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
22	esv3438151	chr3:46734173-46736721	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46733400-46734800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr3:46733600-46735000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr3:46733600-46735000	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr3:46733800-46734800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr3:46733800-46735000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr3:46733800-46735000	Flanking Active TSS	Fetal Intestine Large	intestine
7	chr3:46733800-46735000	Flanking Active TSS	Fetal Intestine Small	intestine
8	chr3:46734000-46734800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
9	chr3:46734000-46734800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr3:46734000-46734800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:46734000-46734800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:46734000-46734800	Flanking Active TSS	Pancreas	Pancrea
13	chr3:46734000-46734800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr3:46734000-46735000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr3:46734000-46735000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr3:46734000-46735000	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr3:46734000-46735000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr3:46734000-46735600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:46734000-46735600	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr3:46734000-46735600	Active TSS	Colon Smooth Muscle	Colon
21	chr3:46734000-46736200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr3:46734200-46734800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:46734200-46734800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr3:46734200-46734800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:46734200-46734800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:46734200-46734800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
27	chr3:46734200-46734800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:46734200-46734800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr3:46734200-46734800	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr3:46734200-46734800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr3:46734200-46734800	Flanking Active TSS	Stomach Mucosa	stomach
32	chr3:46734200-46735000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr3:46734200-46735000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:46734200-46735000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:46734200-46735000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr3:46734200-46735000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
37	chr3:46734200-46735000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:46734200-46735000	Flanking Active TSS	Liver	Liver
39	chr3:46734200-46735000	Bivalent Enhancer	Fetal Brain Male	brain
40	chr3:46734200-46735000	Flanking Active TSS	HSMM	muscle
41	chr3:46734200-46735000	Flanking Active TSS	HUVEC	blood vessel
42	chr3:46734200-46735200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:46734200-46735200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr3:46734200-46735200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:46734200-46735200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
46	chr3:46734200-46735200	Active TSS	NHDF-Ad	bronchial
47	chr3:46734200-46735400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:46734200-46735400	Active TSS	HMEC	breast
49	chr3:46734200-46735400	Active TSS	NHEK	skin
50	chr3:46734200-46735600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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