Variant report

Variant	rs73169674
Chromosome Location	chr7:150949408-150949409
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	MAZ	chr7:150948322-150950503	IMR90	lung:	n/a	n/a
2	NRF1	chr7:150948267-150949770	SK-N-SH	brain:	n/a	chr7:150949056-150949067 chr7:150949056-150949070
3	TAF1	chr7:150948648-150949660	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr7:150948643-150949760	HUVEC	blood vessel:	n/a	n/a
5	SIN3A	chr7:150948414-150949797	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr7:150949009-150949576	SK-N-SH_RA	brain:	n/a	chr7:150949120-150949131 chr7:150949123-150949134 chr7:150949066-150949075 chr7:150949181-150949198 chr7:150949175-150949197
7	POLR2A	chr7:150948863-150949616	PFSK-1	brain:	n/a	n/a
8	CTBP2	chr7:150948694-150950541	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr7:150948348-150949594	HCT-116	colon:	n/a	n/a
10	POLR2A	chr7:150948681-150950054	SK-N-SH	brain:	n/a	n/a
11	REST	chr7:150948097-150950685	H1-neurons	neurons:	n/a	chr7:150948895-150948905 chr7:150950263-150950276 chr7:150949138-150949151
12	YY1	chr7:150948572-150949766	SK-N-SH	brain:	n/a	chr7:150949120-150949131 chr7:150949123-150949134 chr7:150949066-150949075 chr7:150949181-150949198 chr7:150949175-150949197
13	EP300	chr7:150948319-150949662	SK-N-SH	brain:	n/a	chr7:150949098-150949114 chr7:150949111-150949127
14	YY1	chr7:150949023-150949560	SK-N-SH	brain:	n/a	chr7:150949120-150949131 chr7:150949123-150949134 chr7:150949066-150949075 chr7:150949181-150949198 chr7:150949175-150949197
15	TAF1	chr7:150948556-150949643	H1-neurons	neurons:	n/a	n/a
16	TAF1	chr7:150949069-150949714	H1-neurons	neurons:	n/a	n/a
17	TCF7L2	chr7:150948551-150949712	HCT-116	colon:	n/a	n/a
18	YY1	chr7:150948555-150949462	SK-N-SH_RA	brain:	n/a	chr7:150949120-150949131 chr7:150949123-150949134 chr7:150949066-150949075 chr7:150949181-150949198 chr7:150949175-150949197
19	POLR2A	chr7:150948570-150949511	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr7:150948319-150949824	H1-neurons	neurons:	n/a	n/a
21	TAF1	chr7:150949016-150949550	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr7:150948664-150949610	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr7:150948653-150949596	PFSK-1	brain:	n/a	n/a
24	TCF12	chr7:150949026-150949422	ECC-1	luminal epithelium:	n/a	chr7:150949226-150949236
25	UBTF	chr7:150948514-150949419	K562	blood:	n/a	n/a
26	ZNF263	chr7:150948217-150950612	HEK293-T-REx	kidney:	n/a	chr7:150949847-150949856 chr7:150949142-150949151 chr7:150949143-150949164 chr7:150949756-150949765 chr7:150949850-150949859 chr7:150950227-150950236 chr7:150948709-150948718 chr7:150950567-150950576
27	POLR2A	chr7:150948671-150949501	ProgFib	skin:	n/a	n/a
28	YY1	chr7:150949083-150949418	A549	lung:	n/a	chr7:150949120-150949131 chr7:150949123-150949134 chr7:150949181-150949198 chr7:150949175-150949197
29	POLR2A	chr7:150948730-150949635	U87	brain:	n/a	n/a
30	POLR2A	chr7:150948484-150950723	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr7:150948699-150949664	IMR90	lung:	n/a	n/a
32	NR2F2	chr7:150948655-150949424	MCF-7	breast:	n/a	n/a
33	MAX	chr7:150948159-150949443	A549	lung:	n/a	n/a
34	POLR2A	chr7:150949021-150949723	U87	brain:	n/a	n/a
35	MAX	chr7:150948277-150949683	SK-N-SH	brain:	n/a	n/a
36	MAX	chr7:150948295-150949659	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr7:150949015-150949723	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150949363..150951350-chr7:150953823..150956264,2	K562	blood:
2	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:
3	chr7:150705057..150707030-chr7:150948019..150950739,2	K562	blood:
4	chr7:150863343..150865061-chr7:150947610..150949922,2	MCF-7	breast:
5	chr7:150948703..150950863-chr7:150952432..150955323,2	K562	blood:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000164867	Chromatin interaction
ENSG00000033100	Chromatin interaction
ENSG00000164900	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	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1122979	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61591132	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73169642	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73169649	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73169650	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73169651	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73169652	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73169654	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73169662	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73169668	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73169671	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73169672	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73169678	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73169679	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7781265	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782699	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7812088	0.90[AMR][1000 genomes];0.90[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	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
6	esv3341107	chr7:150949269-150951767	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150948400-150949600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:150948400-150949600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr7:150948400-150949600	Active TSS	NHLF	lung
4	chr7:150948400-150949800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:150948400-150949800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr7:150948400-150949800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:150948400-150950000	Active TSS	Aorta	Aorta
8	chr7:150948400-150950000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
9	chr7:150948600-150949600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:150948600-150949600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150948600-150949600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:150948600-150949600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:150948600-150949600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:150948600-150949600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr7:150948600-150949600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
16	chr7:150948600-150949600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:150948600-150949600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:150948600-150949600	Active TSS	Brain Angular Gyrus	brain
19	chr7:150948600-150949600	Active TSS	Brain Anterior Caudate	brain
20	chr7:150948600-150949600	Active TSS	Brain Hippocampus Middle	brain
21	chr7:150948600-150949600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:150948600-150949600	Active TSS	Brain Substantia Nigra	brain
23	chr7:150948600-150949600	Active TSS	Colon Smooth Muscle	Colon
24	chr7:150948600-150949600	Active TSS	Fetal Lung	lung
25	chr7:150948600-150949600	Active TSS	Left Ventricle	heart
26	chr7:150948600-150949600	Active TSS	Psoas Muscle	Psoas
27	chr7:150948600-150949600	Active TSS	Right Ventricle	heart
28	chr7:150948600-150949600	Active TSS	NHDF-Ad	bronchial
29	chr7:150948600-150949800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:150948600-150949800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:150948600-150949800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr7:150948600-150949800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:150948600-150949800	Active TSS	Gastric	stomach
34	chr7:150948600-150949800	Active TSS	Ovary	ovary
35	chr7:150948600-150949800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr7:150948600-150950000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:150948600-150950000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:150948600-150950200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr7:150948800-150949600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:150948800-150949600	Active TSS	Esophagus	oesophagus
41	chr7:150948800-150949800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:150948800-150949800	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr7:150949000-150949600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:150949000-150949800	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr7:150949000-150950000	Transcr. at gene 5' and 3'	Right Atrium	heart
46	chr7:150949200-150949600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:150949200-150949600	Active TSS	Fetal Heart	heart
48	chr7:150949200-150949600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr7:150949200-150949600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
50	chr7:150949200-150949600	Flanking Active TSS	HMEC	breast

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