Variant report

Variant	rs481133
Chromosome Location	chr13:52360414-52360415
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52358613..52360700-chr13:52362310..52366609,3	K562	blood:
2	chr13:52025546..52028961-chr13:52358733..52362473,4	K562	blood:
3	chr13:52353786..52355970-chr13:52358653..52360551,2	K562	blood:
4	chr13:52354470..52357253-chr13:52359051..52361790,2	K562	blood:
5	chr13:52358426..52362241-chr13:52376415..52379493,4	K562	blood:
6	chr13:52025898..52027708-chr13:52360165..52361776,2	MCF-7	breast:
7	chr13:52354659..52356461-chr13:52357844..52360753,2	MCF-7	breast:
8	chr13:52025138..52029754-chr13:52357567..52361649,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231856	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000102796	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000236778	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17597531	1.00[ASW][hapmap]
rs1885854	1.00[ASW][hapmap]
rs2296028	1.00[ASW][hapmap]
rs2296029	1.00[ASW][hapmap]
rs3908968	1.00[ASW][hapmap]
rs4555048	1.00[ASW][hapmap]
rs9526786	1.00[ASW][hapmap]
rs9526788	1.00[ASW][hapmap]
rs9526793	1.00[ASW][hapmap]
rs9535717	1.00[ASW][hapmap]
rs9535722	1.00[ASW][hapmap]
rs9535739	1.00[ASW][hapmap]
rs9535746	1.00[ASW][hapmap]

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	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv1840020	chr13:52345838-52388765	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52339600-52361400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:52339800-52371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:52341400-52361200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr13:52344600-52371800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:52345400-52363400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr13:52346400-52376000	Weak transcription	Thymus	Thymus
9	chr13:52348000-52361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr13:52348200-52361400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr13:52348200-52362600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr13:52348200-52375600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:52348200-52375600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:52350600-52367200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:52353000-52366400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:52353000-52368200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:52353400-52366400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr13:52353600-52367200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:52354800-52363800	Enhancers	Pancreas	Pancrea
20	chr13:52355000-52370600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:52356000-52367200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:52356000-52371000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr13:52356000-52371400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr13:52356200-52367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:52356400-52367600	Weak transcription	Primary B cells from cord blood	blood
26	chr13:52356600-52367200	Weak transcription	Esophagus	oesophagus
27	chr13:52356600-52367600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr13:52357000-52360800	Weak transcription	Spleen	Spleen
29	chr13:52357000-52362400	Weak transcription	Liver	Liver
30	chr13:52357200-52371200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:52357800-52361400	Strong transcription	Primary T cells from cord blood	blood
32	chr13:52358000-52372000	Weak transcription	HepG2	liver
33	chr13:52358600-52368200	Weak transcription	Fetal Intestine Small	intestine
34	chr13:52358600-52375600	Weak transcription	Colonic Mucosa	Colon
35	chr13:52359000-52375600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr13:52359400-52361600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr13:52359600-52361000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr13:52359600-52361200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:52359600-52361400	Enhancers	HSMMtube	muscle
40	chr13:52359600-52361800	Enhancers	Lung	lung
41	chr13:52359600-52362400	Enhancers	Fetal Muscle Leg	muscle
42	chr13:52359800-52360800	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr13:52359800-52361600	Enhancers	Fetal Heart	heart
44	chr13:52359800-52361600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr13:52359800-52361800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:52359800-52361800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr13:52359800-52361800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:52359800-52361800	Enhancers	Ovary	ovary
49	chr13:52359800-52361800	Enhancers	Psoas Muscle	Psoas
50	chr13:52360000-52360600	Flanking Active TSS	Adipose Nuclei	Adipose

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