Variant report

Variant	rs17173608
Chromosome Location	chr7:150036664-150036665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150036636-150037794	MCF-7	breast:	n/a	n/a
2	RUNX3	chr7:150036274-150036835	GM12878	blood:	n/a	n/a
3	ATF2	chr7:150036293-150036782	GM12878	blood:	n/a	n/a
4	EBF1	chr7:150036530-150037025	GM12878	blood:	n/a	n/a
5	POU2F2	chr7:150036219-150036672	GM12891	blood:	n/a	chr7:150036432-150036445
6	BATF	chr7:150036550-150036750	GM12878	blood:	n/a	n/a
7	CTCF	chr7:150036580-150036730	HRE	kidney:	n/a	n/a
8	POLR2A	chr7:150036656-150037204	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:150032631-150038069	HepG2	liver:	n/a	n/a
10	EGR1	chr7:150036448-150036699	K562	blood:	n/a	n/a
11	POLR2A	chr7:150035332-150036920	K562	blood:	n/a	n/a
12	CTCF	chr7:150036600-150036750	AG09319	gingival:	n/a	n/a
13	ATF2	chr7:150036367-150036701	GM12878	blood:	n/a	n/a
14	RUNX3	chr7:150036257-150036771	GM12878	blood:	n/a	n/a
15	CTCF	chr7:150036580-150036730	HRPEpiC	eye:	n/a	n/a
16	NFIC	chr7:150036381-150036668	GM12878	blood:	n/a	n/a
17	CTCF	chr7:150036620-150036770	RPTEC	kidney:	n/a	n/a
18	CTCF	chr7:150036620-150036770	HRPEpiC	eye:	n/a	n/a
19	POLR2A	chr7:150035589-150036853	K562	blood:	n/a	n/a
20	CTCF	chr7:150036620-150036770	GM12871	blood:	n/a	n/a
21	CTCF	chr7:150036640-150036790	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr7:150036640-150036790	HCPEpiC	choroid plexus:	n/a	n/a
23	POU2F2	chr7:150036219-150036677	GM12878	blood:	n/a	chr7:150036432-150036445
24	MTA3	chr7:150036224-150036937	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:150035566-150037025	SK-N-MC	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150035829..150037817-chr7:150071967..150074037,2	MCF-7	breast:
2	chr7:150034163..150038835-chr7:150063325..150067223,6	MCF-7	breast:
3	chr7:150035327..150038333-chr7:150065389..150067921,3	MCF-7	breast:
4	chr7:150019150..150025305-chr7:150035524..150043799,10	MCF-7	breast:
5	chr7:150035412..150037141-chr7:150037180..150038754,2	K562	blood:
6	chr7:150018389..150025798-chr7:150030734..150040389,17	MCF-7	breast:
7	chr7:150034829..150038326-chr7:150098733..150102665,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261305	TF binding region
ENSG00000106526	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000214022	Chromatin interaction
ENSG00000106538	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10275627	1.00[ASW][hapmap];0.85[LWK][hapmap];0.83[ASN][1000 genomes]
rs17835738	0.92[TSI][hapmap]
rs17835937	0.84[EUR][1000 genomes]
rs6970196	0.83[ASN][1000 genomes]
rs73474343	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]

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	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	nsv508490	chr7:150006068-150051241	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv518774	chr7:150020295-150036664	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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

Variant related diseases (count:1)

Disease	PMID	Source
Suicide attempts in depression or bipolar disorder	24964207	GWAS catalog

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150021400-150037000	Weak transcription	Brain Substantia Nigra	brain
2	chr7:150021800-150037200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:150022200-150037200	Weak transcription	Small Intestine	intestine
4	chr7:150022400-150037400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:150022600-150036800	Strong transcription	Fetal Brain Female	brain
6	chr7:150025200-150037600	Strong transcription	Dnd41	blood
7	chr7:150025800-150037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:150026400-150036800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:150028200-150037000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:150028400-150037200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:150029200-150036800	Weak transcription	Primary B cells from cord blood	blood
12	chr7:150029200-150037000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:150031400-150037400	Weak transcription	K562	blood
14	chr7:150032600-150036800	Enhancers	Colonic Mucosa	Colon
15	chr7:150033000-150037200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:150033200-150036800	Weak transcription	Stomach Mucosa	stomach
17	chr7:150033200-150037000	Weak transcription	Right Atrium	heart
18	chr7:150033400-150037000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:150033600-150036800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:150033600-150037000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:150033800-150036800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:150033800-150036800	Genic enhancers	Fetal Muscle Leg	muscle
23	chr7:150034400-150037200	Weak transcription	Right Ventricle	heart
24	chr7:150035200-150036800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:150035200-150037000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:150035200-150037200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:150035200-150037400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:150035400-150036800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:150035400-150036800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:150035400-150036800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr7:150035400-150036800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:150035400-150037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:150035600-150036800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:150035600-150037000	Enhancers	Brain Anterior Caudate	brain
35	chr7:150035600-150037200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
36	chr7:150035600-150038000	Enhancers	Spleen	Spleen
37	chr7:150035800-150036800	Weak transcription	Lung	lung
38	chr7:150035800-150037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:150035800-150037200	Enhancers	Primary hematopoietic stem cells	blood
40	chr7:150036000-150036800	Weak transcription	Gastric	stomach
41	chr7:150036000-150036800	Enhancers	HepG2	liver
42	chr7:150036000-150039200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:150036200-150036800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:150036200-150036800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:150036200-150036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:150036200-150036800	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:150036200-150036800	Genic enhancers	Fetal Intestine Small	intestine
48	chr7:150036200-150036800	Weak transcription	Fetal Thymus	thymus
49	chr7:150036200-150037000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr7:150036200-150037200	Enhancers	Fetal Heart	heart

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