Variant report

Variant	rs143471566
Chromosome Location	chr13:110440405-110440406
allele	-/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	MXI1	chr13:110431145-110440503	SK-N-SH	brain:	n/a	chr13:110439837-110439852 chr13:110440136-110440145
2	MAZ	chr13:110437525-110440521	IMR90	lung:	n/a	chr13:110439018-110439028 chr13:110439313-110439323
3	POLR2A	chr13:110438646-110440459	HL-60	blood:	n/a	n/a
4	POLR2A	chr13:110436486-110440423	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr13:110429835-110441120	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr13:110433254-110440498	HL-60	blood:	n/a	n/a
7	POLR2A	chr13:110438656-110440437	H1-neurons	neurons:	n/a	n/a
8	RAD21	chr13:110440071-110440426	H1-hESC	embryonic stem cell:	n/a	n/a
9	HCFC1	chr13:110438651-110440582	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr13:110439287-110440474	K562	blood:	n/a	n/a
11	POLR2A	chr13:110440185-110440883	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr13:110438739-110440475	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110440328-110440912	NONHSAT035119
2	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120

Variant related genes	Relation type
IRS2	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv826794	chr13:110424916-110448628	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
9	nsv826795	chr13:110425465-110448628	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
10	nsv826796	chr13:110430886-110442431	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
11	esv1834749	chr13:110431891-110441483	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
12	esv3502965	chr13:110433651-110441049	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
13	esv1795605	chr13:110435953-110441483	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
14	esv1841056	chr13:110435953-110441483	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
15	esv1795443	chr13:110435953-110453607	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a
16	esv3375101	chr13:110437776-110440824	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110436000-110440600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr13:110436000-110441000	Active TSS	HSMMtube	muscle
3	chr13:110436200-110441000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:110436400-110440600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr13:110436400-110440600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr13:110436600-110440800	Weak transcription	Fetal Heart	heart
7	chr13:110436800-110440600	Active TSS	HMEC	breast
8	chr13:110437800-110441000	Active TSS	Muscle Satellite Cultured Cells	--
9	chr13:110437800-110441200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr13:110438800-110440600	Active TSS	K562	blood
11	chr13:110439200-110440800	Active TSS	A549	lung
12	chr13:110439400-110440800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr13:110439600-110442000	Enhancers	Fetal Brain Male	brain
14	chr13:110439800-110440600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr13:110439800-110440600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr13:110440000-110441200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:110440000-110441400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:110440000-110443200	Enhancers	Dnd41	blood
19	chr13:110440200-110440600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:110440200-110440800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:110440200-110441200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:110440200-110441400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr13:110440200-110441400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr13:110440200-110441800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr13:110440200-110443400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr13:110440200-110443400	Weak transcription	Pancreas	Pancrea
27	chr13:110440200-110443600	Enhancers	Liver	Liver
28	chr13:110440200-110443600	Weak transcription	Esophagus	oesophagus
29	chr13:110440400-110440600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr13:110440400-110440600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr13:110440400-110440600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:110440400-110440600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
33	chr13:110440400-110440600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:110440400-110440600	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr13:110440400-110440600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:110440400-110440600	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:110440400-110440800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr13:110440400-110440800	Enhancers	Primary B cells from cord blood	blood
39	chr13:110440400-110440800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:110440400-110440800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr13:110440400-110440800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:110440400-110440800	Active TSS	Fetal Brain Female	brain
43	chr13:110440400-110441000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:110440400-110441000	Weak transcription	Brain Angular Gyrus	brain
45	chr13:110440400-110441200	Weak transcription	Aorta	Aorta
46	chr13:110440400-110441200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:110440400-110441200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr13:110440400-110441200	Enhancers	HSMM	muscle
49	chr13:110440400-110441400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:110440400-110441400	Enhancers	Primary T helper cells fromperipheralblood	blood

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