Variant report

Variant	rs199620262
Chromosome Location	chr7:27135322-27135323
allele	A/G
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	USF1	chr7:27135274-27136055	ECC-1	luminal epithelium:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
2	ELF1	chr7:27135291-27136264	MCF-7	breast:	n/a	n/a
3	EP300	chr7:27135074-27135849	GM12878	blood:	n/a	chr7:27135583-27135597
4	EP300	chr7:27135221-27135883	GM12878	blood:	n/a	chr7:27135583-27135597
5	STAT5A	chr7:27135254-27135672	GM12878	blood:	n/a	chr7:27135274-27135289
6	CHD2	chr7:27135235-27136257	GM12878	blood:	n/a	n/a
7	MYC	chr7:27135140-27136074	NB4	blood:	n/a	chr7:27135675-27135684
8	TCF12	chr7:27134818-27137091	A549	lung:	n/a	n/a
9	CTCF	chr7:27135260-27135410	HRE	kidney:	n/a	n/a
10	ELF1	chr7:27134859-27136346	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:27135019-27136995	MCF-7	breast:	n/a	n/a
12	TEAD4	chr7:27135311-27136066	ECC-1	luminal epithelium:	n/a	n/a
13	EBF1	chr7:27135113-27135686	GM12878	blood:	n/a	n/a
14	RUNX3	chr7:27135092-27136202	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:27134992-27136369	Raji	blood:	n/a	n/a
16	POLR2A	chr7:27135203-27137275	PANC-1	pancreas:	n/a	n/a
17	USF1	chr7:27135316-27135969	H1-hESC	embryonic stem cell:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
18	POLR2A	chr7:27135166-27139184	PANC-1	pancreas:	n/a	n/a
19	SMARCB1	chr7:27135150-27137019	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:27135092-27136011	HL-60	blood:	n/a	n/a
21	SPI1	chr7:27135285-27135790	GM12891	blood:	n/a	chr7:27135583-27135592
22	POLR2A	chr7:27135236-27137056	GM19193	blood:	n/a	n/a
23	MAX	chr7:27134969-27137180	NB4	blood:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
24	SIN3AK20	chr7:27134769-27137021	PANC-1	pancreas:	n/a	n/a
25	RUNX3	chr7:27135114-27135633	GM12878	blood:	n/a	n/a
26	MAX	chr7:27135205-27136938	A549	lung:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
27	FOXA2	chr7:27134903-27136087	A549	lung:	n/a	n/a
28	MXI1	chr7:27135167-27138001	IMR90	lung:	n/a	n/a
29	SIN3AK20	chr7:27135206-27136149	PANC-1	pancreas:	n/a	n/a
30	IRF4	chr7:27135279-27135789	GM12878	blood:	n/a	n/a
31	USF1	chr7:27135320-27136030	A549	lung:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
32	POLR2A	chr7:27135210-27137167	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr7:27135230-27136728	GM18951	blood:	n/a	n/a
34	POLR2A	chr7:27135186-27137007	NB4	blood:	n/a	n/a
35	NFIC	chr7:27135303-27136143	ECC-1	luminal epithelium:	n/a	n/a
36	SPI1	chr7:27135198-27135839	GM12878	blood:	n/a	chr7:27135583-27135592
37	MAX	chr7:27135146-27137055	HCT-116	colon:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
38	POLR2A	chr7:27135247-27136983	HUVEC	blood vessel:	n/a	n/a
39	E2F6	chr7:27135196-27136984	A549	lung:	n/a	chr7:27136608-27136617 chr7:27136038-27136050 chr7:27135643-27135655
40	MAZ	chr7:27134832-27137306	IMR90	lung:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
41	RAD21	chr7:27135269-27138922	IMR90	lung:	n/a	n/a
42	CHD1	chr7:27134717-27152399	IMR90	lung:	n/a	chr7:27141647-27141657
43	MAX	chr7:27135108-27137044	A549	lung:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
44	SUZ12	chr7:27134939-27135394	H1-hESC	embryonic stem cell:	n/a	n/a
45	USF1	chr7:27135279-27136379	HCT-116	colon:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27136096-27136112 chr7:27135675-27135684 chr7:27136088-27136104 chr7:27135674-27135683 chr7:27135676-27135685

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26902705..26905667-chr7:27132555..27137263,6	MCF-7	breast:
2	7:27130634-27137201..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
3	7:27130634-27137201..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
4	7:27082525-27089724..7:27130634-27137201	Hela-S3	cervix:

Variant related genes	Relation type
HOTAIRM1	TF binding region
ENSG00000106031	Chromatin interaction
ENSG00000253508	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000213786	Chromatin interaction
ENSG00000005020	Chromatin interaction
ENSG00000253552	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
10	nsv887858	chr7:27127231-27188659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv887860	chr7:27127231-27196069	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv887859	chr7:27127231-27196113	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv887861	chr7:27127231-27206688	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
14	nsv887862	chr7:27127231-27217359	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv887863	chr7:27127231-27243106	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
16	nsv887864	chr7:27127231-27243962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
17	nsv887865	chr7:27127231-27247279	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
18	nsv887866	chr7:27127231-27248373	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
19	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
20	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
21	nsv606463	chr7:27135314-27182245	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
22	nsv887868	chr7:27135314-27202289	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27134000-27135600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:27134400-27135400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:27134400-27139000	Active TSS	HMEC	breast
8	chr7:27134600-27135400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr7:27134600-27136800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:27134600-27136800	Active TSS	A549	lung
11	chr7:27134600-27137400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:27134600-27137400	Active TSS	HSMMtube	muscle
13	chr7:27134600-27137400	Active TSS	NHEK	skin
14	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
15	chr7:27134800-27135400	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr7:27134800-27135400	Flanking Active TSS	HUVEC	blood vessel
17	chr7:27134800-27135600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
19	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:27134800-27135600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr7:27134800-27135600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:27134800-27135800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:27134800-27136200	Bivalent/Poised TSS	Thymus	Thymus
25	chr7:27134800-27136800	Active TSS	HSMM	muscle
26	chr7:27134800-27136800	Active TSS	NHDF-Ad	bronchial
27	chr7:27134800-27137200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:27134800-27138800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:27134800-27139200	Bivalent/Poised TSS	NH-A	brain
30	chr7:27134800-27140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:27135000-27135400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr7:27135000-27135400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:27135000-27135400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr7:27135000-27135400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
39	chr7:27135000-27135400	Flanking Active TSS	Esophagus	oesophagus
40	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr7:27135000-27135400	Enhancers	Lung	lung
43	chr7:27135000-27135600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr7:27135000-27135600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:27135000-27135600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr7:27135000-27135600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:27135000-27135600	Bivalent/Poised TSS	Brain Anterior Caudate	brain

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