Variant report

Variant	rs73169668
Chromosome Location	chr7:150930363-150930364
allele	C/T
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	YY1	chr7:150930058-150930522	GM12891	blood:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
2	PML	chr7:150928905-150930473	GM12878	blood:	n/a	chr7:150930373-150930382
3	POLR2A	chr7:150930102-150930432	Hela-S3	cervix:	n/a	n/a
4	FOS	chr7:150929980-150930633	HUVEC	blood vessel:	n/a	chr7:150930371-150930381 chr7:150930372-150930380 chr7:150930371-150930381 chr7:150930370-150930381 chr7:150930371-150930381 chr7:150930370-150930382
5	MAX	chr7:150930273-150930412	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:150929222-150930534	GM18526	blood:	n/a	n/a
7	TAF1	chr7:150930142-150930458	Hela-S3	cervix:	n/a	n/a
8	BATF	chr7:150930204-150930488	GM12878	blood:	n/a	chr7:150930368-150930379 chr7:150930369-150930379
9	YY1	chr7:150929917-150930582	GM12892	blood:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
10	MAX	chr7:150930101-150930631	SK-N-SH	brain:	n/a	n/a
11	YY1	chr7:150930127-150930550	ECC-1	luminal epithelium:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
12	POLR2A	chr7:150929219-150930609	GM12892	blood:	n/a	n/a
13	STAT5A	chr7:150929184-150930640	GM12878	blood:	n/a	chr7:150929713-150929725
14	YY1	chr7:150930251-150930409	K562	blood:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
15	YY1	chr7:150929973-150930547	H1-hESC	embryonic stem cell:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
16	MAX	chr7:150930245-150930523	Hela-S3	cervix:	n/a	n/a
17	MYC	chr7:150930284-150930465	MCF-7	breast:	n/a	n/a
18	YY1	chr7:150930088-150930614	SK-N-SH_RA	brain:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
19	YY1	chr7:150929806-150930630	HepG2	liver:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
20	POLR2A	chr7:150929161-150930929	U87	brain:	n/a	n/a
21	POLR2A	chr7:150930119-150930650	GM15510	blood:	n/a	n/a
22	POLR2A	chr7:150929227-150930698	GM18505	blood:	n/a	n/a
23	POLR2A	chr7:150929107-150930873	GM12878	blood:	n/a	n/a
24	FOS	chr7:150930224-150930499	MCF10A-Er-Src	breast:	n/a	chr7:150930371-150930381 chr7:150930372-150930380 chr7:150930371-150930381 chr7:150930370-150930381 chr7:150930371-150930381 chr7:150930370-150930382
25	MAFK	chr7:150930233-150930606	H1-hESC	embryonic stem cell:	n/a	chr7:150930370-150930379 chr7:150930370-150930380
26	RCOR1	chr7:150930244-150930897	K562	blood:	n/a	n/a
27	YY1	chr7:150930044-150930570	GM12878	blood:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
28	WRNIP1	chr7:150930310-150930689	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:150929223-150930627	Hela-S3	cervix:	n/a	n/a
30	HA-E2F1	chr7:150930031-150930894	MCF-7	breast:	n/a	n/a
31	FOS	chr7:150930209-150930528	MCF10A-Er-Src	breast:	n/a	chr7:150930371-150930381 chr7:150930372-150930380 chr7:150930371-150930381 chr7:150930370-150930381 chr7:150930371-150930381 chr7:150930370-150930382
32	HEY1	chr7:150930019-150930755	K562	blood:	n/a	n/a
33	RFX5	chr7:150930298-150930410	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:150930021-150930605	Gliobla	brain:	n/a	n/a
35	YY1	chr7:150930110-150930542	H1-hESC	embryonic stem cell:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
36	POLR2A	chr7:150929072-150930789	PBDE	blood:	n/a	n/a
37	POLR2A	chr7:150929075-150930662	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr7:150930298-150930438	MCF-7	breast:	n/a	n/a
39	POLR2A	chr7:150930140-150930543	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr7:150929082-150930761	HepG2	liver:	n/a	n/a
41	YY1	chr7:150930139-150930498	GM12892	blood:	n/a	chr7:150930326-150930338 chr7:150930327-150930335
42	POLR2A	chr7:150929056-150931065	U87	brain:	n/a	n/a
43	MYC	chr7:150929154-150930733	NB4	blood:	n/a	chr7:150929719-150929729 chr7:150929302-150929312
44	POLR2A	chr7:150929250-150930585	HL-60	blood:	n/a	n/a
45	MAX	chr7:150928981-150930621	A549	lung:	n/a	chr7:150929719-150929729 chr7:150929302-150929312
46	POLR2A	chr7:150929235-150930517	NB4	blood:	n/a	n/a
47	GABPA	chr7:150929081-150930601	SK-N-SH	brain:	n/a	chr7:150930278-150930287 chr7:150929718-150929727 chr7:150929508-150929517
48	SIN3AK20	chr7:150929054-150931108	MCF-7	breast:	n/a	n/a
49	MYC	chr7:150930246-150930791	K562	blood:	n/a	n/a
50	MYC	chr7:150930210-150930494	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72524051..72524823-chr7:150929953..150930522,2	Hela-S3	cervix:
2	chr7:150929647..150931224-chr7:151029766..151031795,2	MCF-7	breast:
3	chr7:150776319..150779502-chr7:150929825..150933736,3	K562	blood:
4	chr7:150905206..150906764-chr7:150930054..150932100,2	MCF-7	breast:
5	chr7:150929663..150931271-chr7:151251757..151253948,2	MCF-7	breast:
6	chr7:150809563..150811680-chr7:150929692..150931212,2	MCF-7	breast:
7	chr7:150707202..150709348-chr7:150929668..150931245,2	MCF-7	breast:
8	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:
9	chr7:150811889..150814867-chr7:150929281..150931083,2	MCF-7	breast:
10	chr7:150862132..150865299-chr7:150928833..150931121,3	MCF-7	breast:

Variant related genes	Relation type
CHPF2	TF binding region
ENSG00000164900	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000164896	Chromatin interaction
ENSG00000082014	Chromatin interaction
ENSG00000164867	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10233479	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1122979	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61591132	0.93[EUR][1000 genomes]
rs73169642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73169649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73169650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73169651	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73169652	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73169654	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73169662	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73169671	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73169672	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73169674	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73169678	0.93[EUR][1000 genomes]
rs73169679	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7781265	0.93[EUR][1000 genomes]
rs7782699	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7812088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv435860	chr7:150923672-150930735	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150928800-150930400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150928800-150930400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:150928800-150930600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:150928800-150930600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:150928800-150930600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:150928800-150931000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:150929000-150930400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:150929000-150930400	Active TSS	Left Ventricle	heart
9	chr7:150929000-150930600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr7:150929000-150930600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:150929000-150930600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:150929000-150930600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:150929000-150930600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:150929000-150930600	Active TSS	Aorta	Aorta
15	chr7:150929000-150930800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:150929000-150930800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:150929000-150931000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr7:150929000-150931000	Active TSS	Psoas Muscle	Psoas
19	chr7:150929000-150931200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr7:150929000-150931600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr7:150929200-150930400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:150929200-150930400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:150929200-150930400	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr7:150929200-150930400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:150929200-150930400	Active TSS	Brain Angular Gyrus	brain
26	chr7:150929200-150930400	Active TSS	Fetal Intestine Large	intestine
27	chr7:150929200-150930400	Active TSS	Gastric	stomach
28	chr7:150929200-150930400	Active TSS	Ovary	ovary
29	chr7:150929200-150930400	Active TSS	Placenta Amnion	Placenta Amnion
30	chr7:150929200-150930400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr7:150929200-150930400	Active TSS	Small Intestine	intestine
32	chr7:150929200-150930400	Active TSS	A549	lung
33	chr7:150929200-150930600	Active TSS	Fetal Kidney	kidney
34	chr7:150929200-150930600	Active TSS	Hela-S3	cervix
35	chr7:150929200-150930800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:150929200-150930800	Active TSS	HSMMtube	muscle
37	chr7:150929200-150931000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:150929200-150931000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:150929200-150931200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:150929200-150931200	Active TSS	NHDF-Ad	bronchial
41	chr7:150929200-150931400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr7:150929400-150930400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:150929400-150930400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:150929400-150930400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:150929400-150930400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:150929400-150930400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:150929400-150930400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:150929400-150930400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:150929400-150930400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr7:150929400-150930400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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