Variant report

Variant	rs72967145
Chromosome Location	chr1:92234908-92234909
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	POLR2A	chr1:92234876-92234933	ProgFib	skin:	n/a	n/a
2	ELF1	chr1:92234832-92235147	K562	blood:	n/a	n/a
3	CBX3	chr1:92234830-92235214	K562	blood:	n/a	n/a
4	POLR2A	chr1:92234493-92235106	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92231081..92233303-chr1:92233328..92236066,2	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region
ENSG00000069702	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57972277	1.00[AFR][1000 genomes]
rs58198708	1.00[AFR][1000 genomes]
rs59197518	1.00[AFR][1000 genomes]
rs60063061	1.00[AFR][1000 genomes]
rs72967116	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv988308	chr1:92227910-92236935	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3320420	chr1:92230064-92235262	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
4	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
6	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
7	chr1:92219400-92238200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:92220600-92255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:92221000-92248000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:92224400-92242800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:92225200-92235000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:92225400-92241600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:92226600-92236400	Weak transcription	Brain Substantia Nigra	brain
14	chr1:92227000-92257200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:92227800-92235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:92228600-92235200	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:92229200-92241600	Weak transcription	Esophagus	oesophagus
18	chr1:92229400-92235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:92230200-92240800	Weak transcription	Right Atrium	heart
20	chr1:92230400-92242400	Weak transcription	Lung	lung
21	chr1:92230600-92235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:92230600-92247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:92231000-92246800	Weak transcription	Hela-S3	cervix
24	chr1:92231200-92235000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:92231200-92235000	Weak transcription	Spleen	Spleen
26	chr1:92231200-92235400	Weak transcription	Adipose Nuclei	Adipose
27	chr1:92231200-92236400	Weak transcription	Fetal Lung	lung
28	chr1:92231200-92238200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:92231200-92240200	Weak transcription	Pancreas	Pancrea
30	chr1:92231400-92242600	Weak transcription	Stomach Mucosa	stomach
31	chr1:92232200-92235000	Weak transcription	Ovary	ovary
32	chr1:92232400-92235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:92232600-92235000	Weak transcription	Liver	Liver
34	chr1:92232600-92243200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:92232800-92235000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:92232800-92237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:92233000-92235000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:92233200-92257000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:92233400-92235600	Enhancers	Placenta	Placenta
40	chr1:92233400-92246800	Weak transcription	A549	lung
41	chr1:92234000-92235000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:92234000-92235600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:92234000-92236800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:92234200-92235200	Enhancers	NH-A	brain
45	chr1:92234200-92235600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:92234200-92235600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:92234200-92235800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:92234400-92235400	Strong transcription	Fetal Stomach	stomach
49	chr1:92234400-92235600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr1:92234400-92235600	Enhancers	Psoas Muscle	Psoas

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