Variant report

Variant	rs13404944
Chromosome Location	chr2:97027703-97027704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97022665..97024722-chr2:97027566..97029365,2	K562	blood:
2	chr2:97027281..97029651-chr2:97031268..97034024,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10167824	1.00[EUR][1000 genomes]
rs10168350	1.00[EUR][1000 genomes]
rs10195177	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10205464	1.00[EUR][1000 genomes]
rs13402791	1.00[EUR][1000 genomes]
rs13410507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410926	1.00[EUR][1000 genomes]
rs56206858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56225135	1.00[EUR][1000 genomes]
rs60864960	1.00[EUR][1000 genomes]
rs7565104	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97002000-97036000	Weak transcription	Gastric	stomach
2	chr2:97002200-97037600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:97002600-97031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:97002800-97040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:97003200-97031400	Weak transcription	Primary B cells from cord blood	blood
6	chr2:97004000-97040400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:97004200-97040400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:97006200-97041000	Strong transcription	Dnd41	blood
9	chr2:97006600-97040200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:97006600-97040400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:97006800-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:97006800-97040600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:97006800-97040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:97007000-97040600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:97007200-97040000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:97007200-97040200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:97007200-97040400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:97007200-97041600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:97007400-97040200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:97007400-97040400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:97007400-97040600	Strong transcription	Thymus	Thymus
22	chr2:97008400-97033600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:97011200-97038000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:97011400-97038400	Strong transcription	GM12878-XiMat	blood
25	chr2:97012400-97037600	Weak transcription	Colonic Mucosa	Colon
26	chr2:97012600-97035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:97012600-97040000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:97013800-97040000	Weak transcription	Esophagus	oesophagus
29	chr2:97014800-97040600	Strong transcription	A549	lung
30	chr2:97015000-97039600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:97016800-97035800	Weak transcription	Brain Germinal Matrix	brain
32	chr2:97017000-97040000	Weak transcription	Fetal Kidney	kidney
33	chr2:97017800-97030800	Weak transcription	Fetal Brain Female	brain
34	chr2:97018200-97028800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:97019200-97035000	Weak transcription	Placenta	Placenta
36	chr2:97019200-97040600	Strong transcription	Fetal Thymus	thymus
37	chr2:97019200-97042000	Weak transcription	Spleen	Spleen
38	chr2:97019400-97033600	Strong transcription	K562	blood
39	chr2:97020000-97030000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:97020000-97033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:97020000-97039200	Weak transcription	Fetal Heart	heart
42	chr2:97020000-97041400	Weak transcription	HSMM	muscle
43	chr2:97020200-97028000	Weak transcription	NHDF-Ad	bronchial
44	chr2:97020200-97035600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:97020200-97037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:97020600-97031400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:97020800-97029400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:97022600-97029400	Weak transcription	Fetal Intestine Large	intestine
49	chr2:97024000-97029400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:97024400-97033600	Strong transcription	Fetal Stomach	stomach

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