Variant report

Variant	rs7800164
Chromosome Location	chr7:150061382-150061383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr7:150060955-150061396	GM12878	blood:	n/a	n/a
2	YY1	chr7:150061043-150061396	GM12878	blood:	n/a	n/a
3	MYC	chr7:150061063-150061519	NB4	blood:	n/a	n/a
4	YY1	chr7:150060994-150061404	GM12878	blood:	n/a	n/a
5	RELA	chr7:150061045-150061393	GM19099	blood:	n/a	n/a
6	REST	chr7:150060778-150061586	HL-60	blood:	n/a	n/a
7	NFIC	chr7:150060922-150061443	GM12878	blood:	n/a	n/a
8	SPI1	chr7:150061029-150061385	GM12891	blood:	n/a	n/a
9	SPI1	chr7:150061037-150061409	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:150060868-150061579	HL-60	blood:	n/a	n/a
11	RUNX3	chr7:150060966-150061406	GM12878	blood:	n/a	n/a
12	MTA3	chr7:150060803-150061542	GM12878	blood:	n/a	n/a
13	YY1	chr7:150061046-150061393	GM12891	blood:	n/a	n/a
14	MAX	chr7:150061013-150061615	NB4	blood:	n/a	n/a
15	BHLHE40	chr7:150061098-150061424	GM12878	blood:	n/a	n/a
16	FOS	chr7:150060999-150061400	HUVEC	blood vessel:	n/a	n/a
17	SPI1	chr7:150060865-150061512	HL-60	blood:	n/a	n/a
18	YY1	chr7:150061043-150061403	GM12892	blood:	n/a	n/a
19	POLR2A	chr7:150060984-150061391	HL-60	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150059551..150061730-chr7:150106999..150109857,2	MCF-7	breast:
2	chr7:150027711..150029644-chr7:150060584..150062726,2	MCF-7	breast:
3	chr7:150060431..150062175-chr7:150102140..150104050,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF775	TF binding region
REPIN1	TF binding region
ENSG00000196456	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10237887	1.00[EUR][1000 genomes]
rs10263613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282615	0.81[ASN][1000 genomes]
rs28681607	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6973612	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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 target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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 target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv889459	chr7:150041610-150071464	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	nsv889460	chr7:150060163-150079459	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
19	nsv889461	chr7:150060163-150081485	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
20	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150039200-150065000	Weak transcription	Right Atrium	heart
2	chr7:150053200-150065000	Enhancers	Fetal Thymus	thymus
3	chr7:150055200-150063000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:150055200-150064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:150055200-150065000	Weak transcription	Spleen	Spleen
6	chr7:150056400-150064800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:150056400-150064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150058000-150061600	Enhancers	Fetal Muscle Leg	muscle
9	chr7:150058400-150061400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:150058400-150061400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150058400-150061400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:150058400-150061600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:150058400-150061600	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:150058400-150061800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:150058400-150061800	Flanking Active TSS	Dnd41	blood
16	chr7:150058600-150061400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:150058600-150061600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:150058600-150061600	Enhancers	Placenta	Placenta
19	chr7:150058600-150061800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:150058600-150061800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr7:150058600-150064800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:150058800-150061400	Enhancers	Fetal Kidney	kidney
23	chr7:150059000-150062800	Weak transcription	Fetal Intestine Small	intestine
24	chr7:150059000-150064800	Enhancers	Thymus	Thymus
25	chr7:150059000-150065200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:150059200-150064600	Enhancers	Primary B cells from cord blood	blood
27	chr7:150059200-150065000	Weak transcription	Psoas Muscle	Psoas
28	chr7:150059400-150063200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:150059400-150065000	Enhancers	Primary B cells from peripheral blood	blood
30	chr7:150059600-150064800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:150059800-150064200	Weak transcription	Liver	Liver
32	chr7:150059800-150064400	Weak transcription	HepG2	liver
33	chr7:150059800-150064800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:150059800-150065000	Weak transcription	Left Ventricle	heart
35	chr7:150060000-150064800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:150060200-150061400	Enhancers	HSMM	muscle
37	chr7:150060200-150061600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:150060200-150061600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:150060200-150063200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:150060200-150065000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr7:150060200-150065000	Weak transcription	Fetal Heart	heart
42	chr7:150060400-150062800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:150060400-150065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr7:150060600-150061600	Enhancers	HUVEC	blood vessel
45	chr7:150060600-150061800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:150060600-150061800	Enhancers	Adipose Nuclei	Adipose
47	chr7:150060600-150062800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:150060600-150062800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr7:150060600-150064600	Enhancers	Primary T cells from cord blood	blood
50	chr7:150060600-150064800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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