Variant report

Variant	rs882156
Chromosome Location	chr7:150653336-150653337
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	TBL1XR1	chr7:150652879-150653545	K562	blood:	n/a	n/a
2	RCOR1	chr7:150652732-150653512	K562	blood:	n/a	n/a
3	MYC	chr7:150652644-150653402	K562	blood:	n/a	chr7:150653103-150653113 chr7:150653243-150653253
4	REST	chr7:150652265-150653627	SK-N-SH	brain:	n/a	chr7:150653044-150653057 chr7:150653431-150653444 chr7:150653252-150653265 chr7:150653428-150653441 chr7:150653431-150653444 chr7:150653428-150653441 chr7:150653050-150653063 chr7:150653440-150653453 chr7:150653060-150653070 chr7:150653053-150653066
5	MYC	chr7:150652280-150653511	K562	blood:	n/a	chr7:150653103-150653113 chr7:150653243-150653253
6	POLR2A	chr7:150646567-150654286	K562	blood:	n/a	n/a
7	CCNT2	chr7:150652354-150653743	K562	blood:	n/a	chr7:150653594-150653603 chr7:150652992-150653001 chr7:150653045-150653054 chr7:150652934-150652943
8	BHLHE40	chr7:150652519-150653469	K562	blood:	n/a	chr7:150653060-150653076 chr7:150653052-150653068 chr7:150653008-150653024
9	SIN3AK20	chr7:150650856-150653350	K562	blood:	n/a	n/a
10	HDAC2	chr7:150652936-150653430	K562	blood:	n/a	chr7:150653340-150653349
11	POLR2A	chr7:150652782-150653453	K562	blood:	n/a	n/a
12	HEY1	chr7:150653013-150653575	K562	blood:	n/a	chr7:150653024-150653039 chr7:150653056-150653071
13	STAT5A	chr7:150652787-150653561	K562	blood:	n/a	chr7:150652935-150652947
14	TAF1	chr7:150652936-150653418	K562	blood:	n/a	n/a
15	UBTF	chr7:150652458-150653647	K562	blood:	n/a	n/a
16	POLR2A	chr7:150652472-150654718	K562	blood:	n/a	n/a
17	EP300	chr7:150650408-150655424	SK-N-SH	brain:	n/a	chr7:150652963-150652979 chr7:150653418-150653434 chr7:150651359-150651373 chr7:150652430-150652446 chr7:150654796-150654810
18	TEAD4	chr7:150651547-150653984	K562	blood:	n/a	chr7:150652008-150652017
19	POLR2A	chr7:150652650-150653472	K562	blood:	n/a	n/a
20	TBL1XR1	chr7:150652487-150653382	K562	blood:	n/a	n/a
21	STAT5A	chr7:150652941-150653360	K562	blood:	n/a	n/a
22	ZBTB7A	chr7:150652728-150654077	K562	blood:	n/a	n/a
23	NFIC	chr7:150653081-150653602	SK-N-SH	brain:	n/a	chr7:150653397-150653414
24	MAZ	chr7:150652149-150653482	IMR90	lung:	n/a	chr7:150653103-150653113
25	MYC	chr7:150652315-150653571	K562	blood:	n/a	chr7:150653103-150653113 chr7:150653243-150653253
26	CHD2	chr7:150652674-150653368	K562	blood:	n/a	n/a
27	GABPA	chr7:150652780-150653518	K562	blood:	n/a	n/a
28	POLR2A	chr7:150649576-150654147	K562	blood:	n/a	n/a
29	UBTF	chr7:150651693-150653561	K562	blood:	n/a	n/a
30	ELF1	chr7:150652940-150653433	K562	blood:	n/a	n/a
31	TRIM28	chr7:150652736-150653480	K562	blood:	n/a	chr7:150653146-150653154
32	ETS1	chr7:150652275-150653369	K562	blood:	n/a	chr7:150652992-150653003 chr7:150652354-150652367 chr7:150653045-150653056
33	TEAD4	chr7:150652651-150653569	K562	blood:	n/a	n/a
34	MXI1	chr7:150650255-150655330	SK-N-SH	brain:	n/a	chr7:150654842-150654851
35	MAX	chr7:150650056-150654083	K562	blood:	n/a	chr7:150653103-150653113 chr7:150653243-150653253
36	BACH1	chr7:150653134-150653352	K562	blood:	n/a	n/a
37	CBX3	chr7:150652921-150653429	K562	blood:	n/a	n/a
38	E2F4	chr7:150652718-150653669	K562	blood:	n/a	n/a
39	TBP	chr7:150652498-150653371	K562	blood:	n/a	n/a
40	NR2F2	chr7:150652943-150654214	K562	blood:	n/a	chr7:150653933-150653948
41	MAX	chr7:150652320-150653411	NB4	blood:	n/a	chr7:150653103-150653113 chr7:150653243-150653253
42	GTF2B	chr7:150652993-150653345	K562	blood:	n/a	n/a
43	E2F6	chr7:150652785-150653666	K562	blood:	n/a	n/a
44	IRF1	chr7:150652724-150653359	K562	blood:	n/a	chr7:150653319-150653328
45	MAX	chr7:150652697-150653525	K562	blood:	n/a	chr7:150653103-150653113 chr7:150653243-150653253
46	ELF1	chr7:150652576-150653503	K562	blood:	n/a	n/a
47	GATA1	chr7:150653019-150653533	PBDE	blood:	n/a	chr7:150653339-150653348 chr7:150653341-150653348 chr7:150653338-150653350
48	NR2F2	chr7:150651678-150654710	K562	blood:	n/a	chr7:150653933-150653948
49	GATA2	chr7:150652970-150653508	K562	blood:	n/a	chr7:150653339-150653348 chr7:150653341-150653348 chr7:150653338-150653350
50	JUN	chr7:150650033-150653656	K562	blood:	n/a	chr7:150652964-150652973 chr7:150653138-150653150

No.	Distal block	Cell Line	Cell type
1	chr7:150651843..150653881-chr7:150784068..150785698,2	MCF-7	breast:
2	chr7:150567773..150569879-chr7:150653213..150655593,2	K562	blood:
3	chr7:150653093..150655640-chr7:150657394..150660194,2	MCF-7	breast:
4	chr7:150653312..150655773-chr7:150901970..150904173,2	K562	blood:
5	chr7:150652621..150654850-chr7:150754233..150756879,2	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
ENSG00000133612	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000164885	Chromatin interaction
ENSG00000055118	Chromatin interaction
ENSG00000183016	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1137617	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11763131	0.89[ASN][1000 genomes]
rs12540183	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13244889	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2907947	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2968853	0.92[GIH][hapmap];0.90[TSI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2968855	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2968857	1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2968860	1.00[CHB][hapmap];0.95[GIH][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2968862	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807373	0.89[ASN][1000 genomes]
rs4725980	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4725983	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs731724	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs758889	0.80[EUR][1000 genomes]
rs887586	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	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
3	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
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
8	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription 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	52 gene(s)	inside rSNPs	diseases
13	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
16	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
17	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
18	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
20	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
21	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv970969	chr7:150645769-150655995	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150649800-150654800	Enhancers	Left Ventricle	heart
2	chr7:150650400-150654600	Enhancers	Right Ventricle	heart
3	chr7:150650800-150653400	Enhancers	Pancreas	Pancrea
4	chr7:150651000-150654000	Enhancers	Fetal Lung	lung
5	chr7:150651000-150654200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:150651200-150653600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:150651400-150653400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:150651400-150653400	Enhancers	Brain Anterior Caudate	brain
9	chr7:150651600-150653800	Bivalent Enhancer	Placenta	Placenta
10	chr7:150651600-150654000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150651600-150654000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:150651600-150654000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:150651800-150653400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:150651800-150653400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:150651800-150653400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr7:150651800-150653600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr7:150651800-150654000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:150652000-150653400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:150652000-150653400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr7:150652000-150653600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:150652200-150653400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:150652200-150653400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:150652200-150663800	Weak transcription	HSMMtube	muscle
24	chr7:150652400-150653400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:150652400-150653400	Enhancers	Lung	lung
26	chr7:150652600-150653400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:150652600-150653400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr7:150652600-150653400	Active TSS	Colonic Mucosa	Colon
29	chr7:150652600-150653400	Genic enhancers	Right Atrium	heart
30	chr7:150652600-150653400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr7:150652600-150654000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:150652600-150662200	Enhancers	Fetal Heart	heart
33	chr7:150652800-150653400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:150652800-150653400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:150652800-150653400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:150652800-150653400	Bivalent Enhancer	Adipose Nuclei	Adipose
37	chr7:150652800-150653600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:150652800-150653600	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr7:150652800-150654000	Enhancers	Brain Germinal Matrix	brain
40	chr7:150652800-150654000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr7:150652800-150655000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr7:150652800-150655000	Bivalent Enhancer	Fetal Stomach	stomach
43	chr7:150652800-150655200	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr7:150652800-150660000	Weak transcription	Gastric	stomach
45	chr7:150652800-150666400	Weak transcription	Brain Angular Gyrus	brain
46	chr7:150653000-150653400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:150653000-150653400	Bivalent Enhancer	Esophagus	oesophagus
48	chr7:150653000-150653400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
49	chr7:150653000-150653400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr7:150653000-150653600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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