Variant report

Variant	rs72941214
Chromosome Location	chr2:97287838-97287839
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	chr2:97287823-97287883	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97275865..97277715-chr2:97285589..97288319,2	K562	blood:

Variant related genes	Relation type
KANSL3	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183164	0.97[ASN][1000 genomes]
rs10185002	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10199227	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10203766	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10209315	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13384114	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13389475	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13393729	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13395011	0.99[ASN][1000 genomes]
rs13398740	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13405842	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292942	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35715176	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55687728	0.89[ASN][1000 genomes]
rs55716397	0.89[ASN][1000 genomes]
rs59398186	0.97[ASN][1000 genomes]
rs59426746	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60326991	0.90[ASN][1000 genomes]
rs61063398	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6718340	0.90[ASN][1000 genomes]
rs6732115	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6733589	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6753713	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72939379	0.89[ASN][1000 genomes]
rs72941209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72941219	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72941235	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs747757	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7604736	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7607990	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers 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 miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
3	chr2:97266200-97291000	Strong transcription	Fetal Stomach	stomach
4	chr2:97273200-97291800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:97275000-97298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:97277200-97291800	Weak transcription	Stomach Mucosa	stomach
7	chr2:97278600-97293200	Weak transcription	Small Intestine	intestine
8	chr2:97279800-97293200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:97281600-97291800	Strong transcription	Fetal Muscle Leg	muscle
10	chr2:97283000-97288000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:97283000-97288400	Weak transcription	Right Atrium	heart
12	chr2:97283000-97293800	Weak transcription	Fetal Heart	heart
13	chr2:97283000-97296400	Weak transcription	Psoas Muscle	Psoas
14	chr2:97283200-97293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:97283400-97294600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:97283600-97293800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:97285000-97288800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:97285200-97296600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:97285400-97288400	Weak transcription	Brain Germinal Matrix	brain
20	chr2:97285400-97288400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:97285400-97288400	Weak transcription	Brain Substantia Nigra	brain
22	chr2:97285400-97288600	Weak transcription	Brain Angular Gyrus	brain
23	chr2:97285400-97290800	Weak transcription	HSMMtube	muscle
24	chr2:97285400-97291800	Weak transcription	HMEC	breast
25	chr2:97285400-97292000	Weak transcription	Aorta	Aorta
26	chr2:97285400-97293400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:97285400-97293600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:97285400-97293600	Weak transcription	Ovary	ovary
29	chr2:97285400-97294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:97285400-97296800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:97285400-97302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:97285600-97288400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:97285600-97288400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:97285600-97288400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:97285600-97288400	Weak transcription	Thymus	Thymus
36	chr2:97285600-97288400	Weak transcription	Spleen	Spleen
37	chr2:97285600-97288600	Weak transcription	Primary B cells from cord blood	blood
38	chr2:97285600-97288600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:97285600-97288600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:97285600-97288600	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:97285600-97288800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:97285600-97289600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:97285600-97290800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:97285600-97291000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:97285600-97291000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:97285600-97291200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:97285600-97291600	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:97285600-97293200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:97285600-97293200	Weak transcription	Lung	lung
50	chr2:97285600-97293200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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