Variant report

Variant	rs368221577
Chromosome Location	chr7:27135641-27135642
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	ELF1	chr7:27135510-27135940	A549	lung:	n/a	n/a
2	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
3	TAF1	chr7:27135460-27136905	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr7:27135380-27135944	U87	brain:	n/a	n/a
5	WRNIP1	chr7:27135429-27135754	GM12878	blood:	n/a	n/a
6	STAT1	chr7:27135477-27135677	GM12878	blood:	n/a	n/a
7	SPI1	chr7:27135385-27135764	GM12891	blood:	n/a	chr7:27135583-27135592
8	USF1	chr7:27135505-27135894	SK-N-SH	brain:	n/a	chr7:27135675-27135684 chr7:27135674-27135685 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
9	FOS	chr7:27135558-27135845	MCF10A-Er-Src	breast:	n/a	chr7:27135641-27135650 chr7:27135642-27135651
10	JUND	chr7:27135543-27136286	A549	lung:	n/a	chr7:27135641-27135650 chr7:27135642-27135651
11	ELF1	chr7:27135291-27136264	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:27135620-27135944	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:27135411-27136813	GM15510	blood:	n/a	n/a
14	NFYB	chr7:27135523-27135864	K562	blood:	n/a	chr7:27135685-27135700
15	TCF12	chr7:27135509-27136234	ECC-1	luminal epithelium:	n/a	n/a
16	FOS	chr7:27135417-27136225	HUVEC	blood vessel:	n/a	chr7:27135641-27135650 chr7:27135642-27135651
17	EP300	chr7:27135074-27135849	GM12878	blood:	n/a	chr7:27135583-27135597
18	ELF1	chr7:27135423-27136375	MCF-7	breast:	n/a	n/a
19	MAX	chr7:27135483-27135891	HUVEC	blood vessel:	n/a	chr7:27135675-27135684
20	EP300	chr7:27135221-27135883	GM12878	blood:	n/a	chr7:27135583-27135597
21	STAT5A	chr7:27135254-27135672	GM12878	blood:	n/a	chr7:27135274-27135289
22	YY1	chr7:27135338-27136047	A549	lung:	n/a	n/a
23	ATF3	chr7:27135543-27135762	K562	blood:	n/a	n/a
24	CHD2	chr7:27135235-27136257	GM12878	blood:	n/a	n/a
25	ELF1	chr7:27135325-27135950	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:27135368-27137088	GM18505	blood:	n/a	n/a
27	FOS	chr7:27135584-27135846	MCF10A-Er-Src	breast:	n/a	chr7:27135641-27135650 chr7:27135642-27135651
28	RAD21	chr7:27135415-27136105	A549	lung:	n/a	n/a
29	SIN3A	chr7:27135335-27136185	GM12878	blood:	n/a	chr7:27136103-27136114 chr7:27135647-27135658
30	MYC	chr7:27135140-27136074	NB4	blood:	n/a	chr7:27135675-27135684
31	TCF12	chr7:27134818-27137091	A549	lung:	n/a	n/a
32	MAX	chr7:27135323-27137154	ECC-1	luminal epithelium:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
33	BCL3	chr7:27135371-27135981	A549	lung:	n/a	chr7:27135583-27135592
34	ZNF143	chr7:27135434-27135952	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr7:27135454-27135942	GM12878	blood:	n/a	n/a
36	ATF3	chr7:27135477-27135887	H1-hESC	embryonic stem cell:	n/a	n/a
37	PBX3	chr7:27135588-27135859	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:27135373-27136916	ProgFib	skin:	n/a	n/a
39	BHLHE40	chr7:27135355-27136008	GM12878	blood:	n/a	chr7:27135675-27135684 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
40	BCL11A	chr7:27135364-27135734	GM12878	blood:	n/a	chr7:27135583-27135592
41	ATF3	chr7:27135553-27135757	GM12878	blood:	n/a	n/a
42	SP1	chr7:27135355-27136106	A549	lung:	n/a	chr7:27135642-27135654 chr7:27135643-27135652 chr7:27135639-27135653 chr7:27135663-27135677 chr7:27135647-27135661 chr7:27135642-27135654
43	POLR2A	chr7:27135355-27136783	MCF-7	breast:	n/a	n/a
44	BHLHE40	chr7:27135514-27135725	A549	lung:	n/a	chr7:27135675-27135684 chr7:27135669-27135690 chr7:27135673-27135686 chr7:27135675-27135684 chr7:27135674-27135683 chr7:27135676-27135685
45	RFX5	chr7:27135599-27135778	GM12878	blood:	n/a	n/a
46	EBF1	chr7:27135506-27135692	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:27135416-27137465	MCF10A-Er-Src	breast:	n/a	n/a
48	RFX5	chr7:27135542-27135890	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr7:27135596-27135954	GM12878	blood:	n/a	n/a
50	SPI1	chr7:27135471-27135666	GM12878	blood:	n/a	chr7:27135583-27135592

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
HOXA1	TF binding region
HOTAIRM1	TF binding region
ENSG00000253508	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000005020	Chromatin interaction
ENSG00000213786	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:27134400-27139000	Active TSS	HMEC	breast
6	chr7:27134600-27136800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:27134600-27136800	Active TSS	A549	lung
8	chr7:27134600-27137400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:27134600-27137400	Active TSS	HSMMtube	muscle
10	chr7:27134600-27137400	Active TSS	NHEK	skin
11	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
12	chr7:27134800-27135800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:27134800-27136200	Bivalent/Poised TSS	Thymus	Thymus
14	chr7:27134800-27136800	Active TSS	HSMM	muscle
15	chr7:27134800-27136800	Active TSS	NHDF-Ad	bronchial
16	chr7:27134800-27137200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:27134800-27138800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:27134800-27139200	Bivalent/Poised TSS	NH-A	brain
19	chr7:27134800-27140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:27135000-27135800	Active TSS	Placenta Amnion	Placenta Amnion
21	chr7:27135000-27136200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr7:27135000-27136200	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr7:27135000-27136400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:27135000-27136400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:27135000-27136400	Active TSS	Ovary	ovary
26	chr7:27135000-27136800	Active TSS	Liver	Liver
27	chr7:27135000-27136800	Active TSS	Rectal Smooth Muscle	rectum
28	chr7:27135000-27136800	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr7:27135000-27139400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:27135200-27135800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:27135200-27135800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:27135200-27135800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr7:27135200-27135800	Bivalent/Poised TSS	Right Ventricle	heart
34	chr7:27135200-27136200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr7:27135200-27136200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:27135200-27136400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:27135200-27136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:27135200-27136600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:27135200-27136600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:27135200-27136800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:27135200-27136800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:27135200-27136800	Active TSS	Colon Smooth Muscle	Colon
43	chr7:27135200-27136800	Active TSS	Fetal Kidney	kidney
44	chr7:27135200-27136800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
45	chr7:27135200-27136800	Active TSS	Psoas Muscle	Psoas
46	chr7:27135200-27136800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr7:27135200-27136800	Active TSS	Spleen	Spleen
48	chr7:27135200-27136800	Active TSS	Hela-S3	cervix
49	chr7:27135200-27136800	Active TSS	Osteobl	bone
50	chr7:27135200-27137000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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