Variant report

Variant	rs13236828
Chromosome Location	chr7:100426213-100426214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100425990-100426762	HUVEC	blood vessel:	n/a	n/a
2	CHD1	chr7:100426155-100426302	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr7:100426187-100426557	K562	blood:	n/a	n/a
4	REST	chr7:100426191-100426518	K562	blood:	n/a	n/a
5	POLR2A	chr7:100425963-100426643	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr7:100426011-100426536	K562	blood:	n/a	n/a
7	MXI1	chr7:100422162-100426238	IMR90	lung:	n/a	n/a
8	FOXP2	chr7:100426200-100426542	SK-N-MC	brain:	n/a	n/a
9	ZBTB7A	chr7:100426052-100426661	K562	blood:	n/a	chr7:100426267-100426281 chr7:100426268-100426282 chr7:100426368-100426376
10	ETS1	chr7:100426185-100426441	K562	blood:	n/a	chr7:100426346-100426359 chr7:100426286-100426297 chr7:100426283-100426294
11	GATA2	chr7:100426129-100426486	HUVEC	blood vessel:	n/a	n/a
12	IRF1	chr7:100426197-100426419	K562	blood:	n/a	n/a
13	MAZ	chr7:100426203-100426546	K562	blood:	n/a	n/a
14	POLR2A	chr7:100426152-100426566	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr7:100426100-100426250	HUVEC	blood vessel:	n/a	n/a
16	GTF3C2	chr7:100425277-100427220	K562	blood:	n/a	n/a
17	HEY1	chr7:100426178-100426478	K562	blood:	n/a	n/a
18	POLR2A	chr7:100422235-100427552	HUVEC	blood vessel:	n/a	n/a
19	NR2F2	chr7:100426046-100426762	K562	blood:	n/a	n/a
20	YY1	chr7:100426159-100426495	K562	blood:	n/a	chr7:100426283-100426292 chr7:100426317-100426331
21	POLR2A	chr7:100423682-100427339	K562	blood:	n/a	n/a
22	POLR2A	chr7:100426109-100426532	HUVEC	blood vessel:	n/a	n/a
23	CBX3	chr7:100425354-100426608	K562	blood:	n/a	n/a
24	ZNF384	chr7:100425361-100427127	K562	blood:	n/a	n/a
25	ZBTB7A	chr7:100426107-100426669	K562	blood:	n/a	chr7:100426267-100426281 chr7:100426268-100426282 chr7:100426368-100426376
26	POLR2A	chr7:100426095-100426622	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr7:100426056-100426596	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr7:100424890-100426767	SK-N-MC	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100425445..100427592-chr7:100461568..100464406,2	MCF-7	breast:
2	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
3	chr7:100302193..100303928-chr7:100423782..100426431,2	K562	blood:
4	chr7:100422507..100426422-chr7:100448675..100454510,8	MCF-7	breast:
5	chr7:100425740..100428117-chr7:100484984..100487072,2	K562	blood:
6	chr7:100425260..100426798-chr7:100493596..100496066,2	K562	blood:
7	chr7:100424369..100426851-chr7:100449777..100451891,3	MCF-7	breast:
8	chr7:100425738..100428117-chr7:100484984..100487781,2	K562	blood:
9	chr7:100183417..100185001-chr7:100424655..100427018,2	K562	blood:
10	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
11	chr7:100301669..100305063-chr7:100423516..100428632,6	MCF-7	breast:
12	chr7:100423433..100426983-chr7:100448013..100452140,5	K562	blood:
13	chr20:49345925..49349495-chr7:100424000..100426504,3	MCF-7	breast:

No data

Variant related genes	Relation type
EPHB4	TF binding region
ENSG00000077454	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000124171	Chromatin interaction
ENSG00000087087	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10229308	1.00[CHB][hapmap]
rs11770794	1.00[YRI][hapmap]
rs12539083	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs1799805	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs221775	1.00[CHB][hapmap]
rs2272573	1.00[MEX][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS 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	90 gene(s)	inside rSNPs	diseases
8	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
11	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh 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	71 gene(s)	inside rSNPs	diseases
12	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases
13	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
15	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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	90 gene(s)	inside rSNPs	diseases
17	esv3441371	chr7:100423841-100426389	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100422200-100426400	Active TSS	Right Ventricle	heart
2	chr7:100422400-100426400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:100422400-100426400	Active TSS	Right Atrium	heart
4	chr7:100422600-100426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:100422800-100426400	Active TSS	Fetal Kidney	kidney
6	chr7:100422800-100427200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:100423000-100426600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:100423400-100426400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr7:100423400-100426800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:100423400-100427000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:100423400-100427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:100423600-100426400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr7:100423600-100426400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:100423600-100426400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:100423600-100426400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:100423600-100426400	Active TSS	NHDF-Ad	bronchial
17	chr7:100423600-100427000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:100423600-100427200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:100423600-100427400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:100423800-100426400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:100423800-100426400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:100423800-100426400	Active TSS	Gastric	stomach
23	chr7:100423800-100426600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:100424000-100426600	Active TSS	Placenta Amnion	Placenta Amnion
25	chr7:100424200-100426600	Active TSS	Colon Smooth Muscle	Colon
26	chr7:100424200-100426600	Active TSS	NHLF	lung
27	chr7:100424400-100426400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:100424400-100426400	Active TSS	K562	blood
29	chr7:100425200-100426600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:100425400-100426600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr7:100425400-100427200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr7:100425600-100426600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:100425600-100426600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:100425600-100426600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:100425600-100426600	Bivalent/Poised TSS	Fetal Brain Female	brain
36	chr7:100425600-100426600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr7:100425600-100426600	Enhancers	Spleen	Spleen
38	chr7:100425600-100427400	Enhancers	Lung	lung
39	chr7:100425800-100426400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:100425800-100426400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
41	chr7:100425800-100426400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
42	chr7:100425800-100426400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
43	chr7:100425800-100426400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr7:100425800-100426400	Enhancers	NHEK	skin
45	chr7:100425800-100426600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr7:100425800-100426600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr7:100425800-100426600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr7:100425800-100426600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:100425800-100426600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr7:100425800-100426600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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