Variant report

Variant	rs219234
Chromosome Location	chr7:150945434-150945435
allele	C/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	SMARCB1	chr7:150945391-150946629	Hela-S3	cervix:	n/a	n/a
2	EP300	chr7:150945205-150946525	SK-N-SH	brain:	n/a	chr7:150946151-150946160
3	CTCF	chr7:150945380-150945530	HEK293	kidney:	n/a	chr7:150945463-150945471
4	CTCF	chr7:150945300-150945450	HCPEpiC	choroid plexus:	n/a	n/a
5	CREB1	chr7:150945298-150946184	A549	lung:	n/a	n/a
6	MAX	chr7:150945235-150946610	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
7	SP1	chr7:150945424-150945897	A549	lung:	n/a	n/a
8	E2F6	chr7:150945290-150945475	K562	blood:	n/a	n/a
9	EGR1	chr7:150945205-150945674	K562	blood:	n/a	chr7:150945209-150945222 chr7:150945321-150945334 chr7:150945322-150945331
10	CTCF	chr7:150945380-150945530	GM12871	blood:	n/a	chr7:150945463-150945471
11	POLR2A	chr7:150942456-150946649	IMR90	lung:	n/a	n/a
12	EGR1	chr7:150945414-150946047	K562	blood:	n/a	n/a
13	MAX	chr7:150944624-150946666	K562	blood:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150944834-150944843
14	MAX	chr7:150945137-150946765	A549	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
15	ZBTB7A	chr7:150945186-150946420	ECC-1	luminal epithelium:	n/a	chr7:150945786-150945794
16	EP300	chr7:150945430-150946830	ECC-1	luminal epithelium:	n/a	chr7:150946151-150946160 chr7:150946637-150946651 chr7:150946668-150946684
17	HDAC2	chr7:150945432-150946135	K562	blood:	n/a	chr7:150945977-150945986
18	ZBTB7A	chr7:150945073-150946282	K562	blood:	n/a	chr7:150945786-150945794
19	ZBTB7A	chr7:150944351-150946539	K562	blood:	n/a	chr7:150945786-150945794
20	MAX	chr7:150945209-150946678	SK-N-SH	brain:	n/a	chr7:150946089-150946099 chr7:150946092-150946102
21	POLR2A	chr7:150945414-150945435	Gliobla	brain:	n/a	n/a
22	SP1	chr7:150945396-150946012	A549	lung:	n/a	n/a
23	CTCF	chr7:150945380-150945530	AG04449	skin:	n/a	chr7:150945463-150945471
24	MXI1	chr7:150943671-150947189	IMR90	lung:	n/a	chr7:150944194-150944203 chr7:150945408-150945423
25	POLR2A	chr7:150945284-150945826	PFSK-1	brain:	n/a	n/a
26	MAZ	chr7:150945299-150947154	IMR90	lung:	n/a	chr7:150946089-150946099 chr7:150946092-150946102 chr7:150946726-150946735
27	ZNF263	chr7:150942876-150947378	HEK293-T-REx	kidney:	n/a	chr7:150943567-150943576 chr7:150943679-150943688 chr7:150943760-150943769 chr7:150946929-150946938 chr7:150947019-150947028
28	HMGN3	chr7:150945333-150946531	K562	blood:	n/a	chr7:150945977-150945984
29	CTCF	chr7:150945400-150945550	HCM	heart:	n/a	chr7:150945463-150945471
30	MAX	chr7:150944521-150946898	A549	lung:	n/a	chr7:150946089-150946099 chr7:150944835-150944842 chr7:150946092-150946102 chr7:150944833-150944844 chr7:150946726-150946735 chr7:150944834-150944843
31	ZBTB7A	chr7:150944736-150947117	ECC-1	luminal epithelium:	n/a	chr7:150945786-150945794 chr7:150946998-150947005 chr7:150946879-150946886
32	CTCF	chr7:150945400-150945550	SK-N-SH_RA	brain:	n/a	chr7:150945463-150945471
33	SIN3AK20	chr7:150945266-150946258	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr7:150945360-150945510	HUVEC	blood vessel:	n/a	chr7:150945463-150945471

No.	Distal block	Cell Line	Cell type
1	chr7:150941406..150944514-chr7:150945051..150947075,3	MCF-7	breast:
2	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:
3	chr7:150928143..150930111-chr7:150944656..150946614,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243018	TF binding region
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000033100	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10233700	0.87[ASN][1000 genomes]
rs12216605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs122815	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs219227	0.96[ASN][1000 genomes]
rs219228	0.96[ASN][1000 genomes]
rs219231	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2290736	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2792430	0.89[ASN][1000 genomes]
rs2792432	0.87[ASN][1000 genomes]
rs3807385	0.95[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3823589	0.89[ASN][1000 genomes]
rs59066922	0.89[AFR][1000 genomes]
rs59828731	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3374710	chr7:150944544-150947592	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3364561	chr7:150945169-150947267	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150941600-150945600	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:150941800-150945600	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr7:150942000-150945600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:150943400-150945600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:150944000-150945600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:150944000-150945800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr7:150944200-150946400	Active TSS	Right Ventricle	heart
8	chr7:150944400-150946200	Active TSS	HSMM	muscle
9	chr7:150944600-150945800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
10	chr7:150944600-150946400	Active TSS	Brain Angular Gyrus	brain
11	chr7:150944600-150946400	Active TSS	Left Ventricle	heart
12	chr7:150944600-150946800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:150944600-150946800	Active TSS	Fetal Kidney	kidney
14	chr7:150944600-150947000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:150944600-150947000	Active TSS	Aorta	Aorta
16	chr7:150944600-150947000	Active TSS	Psoas Muscle	Psoas
17	chr7:150944800-150945600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:150944800-150945600	Flanking Active TSS	Fetal Brain Male	brain
19	chr7:150944800-150945800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr7:150944800-150945800	Active TSS	Fetal Heart	heart
21	chr7:150944800-150946400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:150944800-150946400	Active TSS	Fetal Lung	lung
23	chr7:150944800-150947000	Active TSS	Right Atrium	heart
24	chr7:150945000-150945600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:150945000-150945600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr7:150945000-150945600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:150945000-150945600	Flanking Active TSS	Placenta	Placenta
28	chr7:150945000-150945800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:150945000-150945800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:150945000-150945800	Flanking Bivalent TSS/Enh	Dnd41	blood
31	chr7:150945000-150945800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr7:150945000-150946000	Active TSS	NHLF	lung
33	chr7:150945000-150946200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:150945000-150946200	Active TSS	Pancreas	Pancrea
35	chr7:150945000-150946400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:150945000-150946400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:150945000-150946400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:150945000-150946400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:150945000-150946400	Active TSS	Ovary	ovary
40	chr7:150945000-150946400	Active TSS	NHDF-Ad	bronchial
41	chr7:150945000-150946600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
42	chr7:150945000-150946600	Active TSS	Brain Substantia Nigra	brain
43	chr7:150945000-150946800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:150945000-150946800	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr7:150945000-150947200	Active TSS	HSMMtube	muscle
46	chr7:150945200-150945600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr7:150945200-150945600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:150945200-150945600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr7:150945200-150945600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:150945200-150945600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum

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