Variant report

Variant	rs73281554
Chromosome Location	chr7:26244059-26244060
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	POLR2A	chr7:26243910-26244210	K562	blood:	n/a	n/a
2	POLR2A	chr7:26243886-26244205	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:26241874-26244447	K562	blood:	n/a	n/a
4	MXI1	chr7:26243817-26244382	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:26243897-26244440	GM12878	blood:	n/a	n/a
6	IRF1	chr7:26243769-26244119	K562	blood:	n/a	chr7:26243946-26243958 chr7:26243883-26243893 chr7:26243883-26243897 chr7:26243882-26243895 chr7:26243875-26243895
7	POLR2A	chr7:26237697-26244169	K562	blood:	n/a	n/a
8	TBL1XR1	chr7:26243278-26244330	K562	blood:	n/a	n/a
9	E2F4	chr7:26243899-26244061	MCF10A-Er-Src	breast:	n/a	n/a
10	MXI1	chr7:26234540-26244604	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:26243752-26244478	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr7:26243893-26244419	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:26243390-26244242	MCF10A-Er-Src	breast:	n/a	n/a
14	HEY1	chr7:26243905-26244378	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:26243874..26246408-chr7:26403177..26404813,2	MCF-7	breast:
2	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
3	chr7:26189582..26191145-chr7:26243499..26245167,2	K562	blood:
4	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
5	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
ENSG00000050344	Chromatin interaction
ENSG00000086300	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11971108	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971320	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971402	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972057	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974685	1.00[ASN][1000 genomes]
rs11975011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976883	0.84[EUR][1000 genomes]
rs11977822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17321514	1.00[ASN][1000 genomes]
rs28409739	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41275982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55754901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813103	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56021640	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56132015	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273868	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56276467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287413	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376224	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56393994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413126	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59142558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59371106	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59685141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820708	1.00[ASN][1000 genomes]
rs60411547	1.00[AMR][1000 genomes]
rs60954252	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61009175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948113	1.00[ASN][1000 genomes]
rs73279689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73279692	1.00[ASN][1000 genomes]
rs73281517	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281562	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281578	0.89[EUR][1000 genomes]
rs73281586	0.89[EUR][1000 genomes]
rs73281591	0.89[EUR][1000 genomes]
rs7793815	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793849	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794205	1.00[ASN][1000 genomes]
rs7798249	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803860	1.00[ASN][1000 genomes]
rs7807030	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv887850	chr7:26236235-26244365	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
4	nsv887851	chr7:26236235-26248965	Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
5	nsv887852	chr7:26236933-26244365	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
6	nsv887853	chr7:26236933-26248965	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	140 gene(s)	inside rSNPs	n/a
7	nsv887854	chr7:26238100-26248965	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	136 gene(s)	inside rSNPs	n/a
8	esv3376986	chr7:26242542-26248102	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
9	esv3440481	chr7:26242638-26245990	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
10	esv1821097	chr7:26243108-26303403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
5	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:26237200-26245000	Active TSS	Thymus	Thymus
7	chr7:26237400-26244200	Active TSS	Fetal Stomach	stomach
8	chr7:26237400-26244200	Active TSS	Psoas Muscle	Psoas
9	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:26239400-26244600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:26239400-26244800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:26242000-26245200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:26242000-26246200	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr7:26242200-26244200	Flanking Active TSS	Liver	Liver
17	chr7:26242200-26244400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr7:26242200-26244400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:26242200-26244600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr7:26242200-26244800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:26242200-26245000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr7:26242200-26245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:26242400-26244400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:26242400-26245000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr7:26242400-26245000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:26242400-26245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:26242400-26245400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
28	chr7:26242400-26245600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
29	chr7:26242400-26246000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
30	chr7:26242400-26249400	Weak transcription	Stomach Mucosa	stomach
31	chr7:26242600-26244200	Flanking Active TSS	Osteobl	bone
32	chr7:26242600-26244400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:26242600-26244400	Enhancers	Brain Substantia Nigra	brain
34	chr7:26242600-26244400	Weak transcription	Left Ventricle	heart
35	chr7:26242600-26244400	Flanking Active TSS	HUVEC	blood vessel
36	chr7:26242600-26244800	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:26242600-26245400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:26242600-26245400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:26242600-26245400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:26242600-26245600	Transcr. at gene 5' and 3'	K562	blood
41	chr7:26242600-26245800	Weak transcription	Placenta	Placenta
42	chr7:26242600-26245800	Transcr. at gene 5' and 3'	A549	lung
43	chr7:26242600-26246600	Weak transcription	Pancreas	Pancrea
44	chr7:26242600-26247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:26242600-26247200	Weak transcription	Lung	lung
46	chr7:26242600-26249200	Weak transcription	Gastric	stomach
47	chr7:26242600-26249400	Weak transcription	Esophagus	oesophagus
48	chr7:26242800-26244200	Active TSS	HepG2	liver
49	chr7:26242800-26244400	Enhancers	Brain Cingulate Gyrus	brain
50	chr7:26242800-26244400	Enhancers	Brain Hippocampus Middle	brain

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