Variant report

Variant	rs72716403
Chromosome Location	chr1:92219177-92219178
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92217896..92221069-chr1:92227993..92231134,3	K562	blood:
2	chr1:92218784..92221286-chr1:92225561..92227867,2	K562	blood:
3	chr1:92218389..92220154-chr1:92230858..92233374,2	K562	blood:
4	chr1:92206771..92209600-chr1:92218197..92220922,3	K562	blood:
5	chr1:92207711..92209549-chr1:92218107..92220194,2	K562	blood:

Variant related genes	Relation type
ENSG00000069702	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12404261	0.84[ASN][1000 genomes]
rs12404952	0.84[ASN][1000 genomes]
rs12406783	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv1826229	chr1:92215725-92233227	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92197600-92230000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:92198200-92224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:92204800-92247000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:92208400-92235800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:92211800-92235600	Weak transcription	Fetal Kidney	kidney
6	chr1:92213000-92224000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:92213800-92235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:92214400-92221600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:92214800-92220200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:92215200-92232400	Weak transcription	A549	lung
11	chr1:92215800-92219400	Weak transcription	Placenta	Placenta
12	chr1:92215800-92221000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:92216200-92219600	Weak transcription	NH-A	brain
14	chr1:92216400-92223400	Weak transcription	Spleen	Spleen
15	chr1:92216800-92223800	Weak transcription	Right Atrium	heart
16	chr1:92216800-92241800	Weak transcription	Aorta	Aorta
17	chr1:92217000-92223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:92217000-92223400	Weak transcription	Lung	lung
19	chr1:92217000-92226200	Weak transcription	Fetal Brain Male	brain
20	chr1:92217200-92219600	Weak transcription	Osteobl	bone
21	chr1:92217200-92220000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:92217200-92220200	Weak transcription	Left Ventricle	heart
23	chr1:92217200-92220400	Weak transcription	Psoas Muscle	Psoas
24	chr1:92217200-92220600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:92217200-92230200	Weak transcription	Pancreas	Pancrea
26	chr1:92217400-92219400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:92217400-92232400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:92217600-92219400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:92217600-92219600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:92217600-92220000	Weak transcription	Ovary	ovary
31	chr1:92217600-92220800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:92217600-92221000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:92217600-92221000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:92217600-92223400	Weak transcription	HSMMtube	muscle
35	chr1:92217600-92230200	Weak transcription	Hela-S3	cervix
36	chr1:92217800-92219400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:92217800-92219400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:92217800-92220200	Weak transcription	Fetal Lung	lung
39	chr1:92217800-92225000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:92217800-92247800	Weak transcription	Small Intestine	intestine
41	chr1:92218000-92219400	Weak transcription	Adipose Nuclei	Adipose
42	chr1:92218000-92220000	Weak transcription	Fetal Heart	heart
43	chr1:92218000-92221000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:92218000-92223000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:92218000-92223000	Weak transcription	Liver	Liver
46	chr1:92218000-92224600	Weak transcription	Brain Anterior Caudate	brain
47	chr1:92218200-92219200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:92218200-92219400	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:92218200-92219400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:92218200-92219400	Weak transcription	Stomach Smooth Muscle	stomach

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