Variant report

Variant	rs72941206
Chromosome Location	chr2:97280204-97280205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97279569..97281862-chr2:97427106..97429462,3	K562	blood:
2	chr2:97271302..97276670-chr2:97279634..97284700,7	K562	blood:
3	chr2:97276979..97279352-chr2:97279926..97282278,2	K562	blood:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10207855	1.00[EUR][1000 genomes]
rs1108786	1.00[EUR][1000 genomes]
rs11888876	1.00[EUR][1000 genomes]
rs11890388	1.00[EUR][1000 genomes]
rs13386976	1.00[EUR][1000 genomes]
rs17119533	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2312956	1.00[EUR][1000 genomes]
rs35069910	1.00[EUR][1000 genomes]
rs3806559	1.00[EUR][1000 genomes]
rs4440007	1.00[EUR][1000 genomes]
rs56246244	1.00[EUR][1000 genomes]
rs57537489	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57754441	1.00[EUR][1000 genomes]
rs58225390	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59503513	1.00[EUR][1000 genomes]
rs6576982	1.00[EUR][1000 genomes]
rs6729813	1.00[EUR][1000 genomes]
rs72939347	1.00[EUR][1000 genomes]
rs72939352	1.00[EUR][1000 genomes]
rs72939374	1.00[EUR][1000 genomes]
rs72939397	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941231	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73959007	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7575530	1.00[EUR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97248400-97283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97256200-97282400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:97256600-97283800	Strong transcription	Placenta	Placenta
4	chr2:97256600-97287000	Strong transcription	Dnd41	blood
5	chr2:97257400-97280800	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:97257400-97282400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:97257600-97280800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:97257600-97286400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:97257800-97286800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:97258000-97283200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:97258200-97283200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:97258200-97286400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:97261200-97281000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
16	chr2:97261400-97282400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:97261600-97283000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:97262200-97280600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:97265200-97282600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:97265600-97280400	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr2:97265800-97280400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:97266200-97280600	Strong transcription	Thymus	Thymus
23	chr2:97266200-97287600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:97266200-97291000	Strong transcription	Fetal Stomach	stomach
25	chr2:97266400-97280400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:97266800-97282400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:97267800-97280400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:97268200-97281800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:97268600-97280600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:97268600-97285800	Strong transcription	Fetal Intestine Large	intestine
31	chr2:97268800-97280400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr2:97268800-97280600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:97268800-97284200	Strong transcription	Liver	Liver
34	chr2:97268800-97287400	Strong transcription	Fetal Intestine Small	intestine
35	chr2:97273200-97291800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:97273400-97287000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:97274600-97280600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:97274800-97281600	Weak transcription	Right Atrium	heart
39	chr2:97275000-97280600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:97275000-97280600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:97275000-97282400	Strong transcription	Left Ventricle	heart
42	chr2:97275000-97298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:97275200-97280600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:97275400-97280400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:97275400-97284600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:97275600-97281800	Strong transcription	Osteobl	bone
47	chr2:97276800-97285000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:97277000-97284400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:97277200-97291800	Weak transcription	Stomach Mucosa	stomach
50	chr2:97278400-97281400	Weak transcription	Fetal Heart	heart

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