Variant report

Variant	rs13404738
Chromosome Location	chr2:97015946-97015947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96967317..96973483-chr2:97015597..97021868,10	K562	blood:
2	chr2:97015565..97019421-chr2:97019712..97022858,3	MCF-7	breast:
3	chr2:97000363..97004034-chr2:97006939..97016132,12	K562	blood:
4	chr2:97011149..97012847-chr2:97013394..97016096,2	K562	blood:

Variant related genes	Relation type
ENSG00000121152	Chromatin interaction
ENSG00000144028	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12328961	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs13401784	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	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
9	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97001800-97016400	Weak transcription	Spleen	Spleen
2	chr2:97002000-97036000	Weak transcription	Gastric	stomach
3	chr2:97002200-97018800	Weak transcription	Right Atrium	heart
4	chr2:97002200-97037600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:97002400-97016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:97002400-97018800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:97002600-97017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:97002600-97031600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:97002800-97018800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:97002800-97040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:97003000-97018400	Weak transcription	Fetal Heart	heart
12	chr2:97003200-97031400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:97004000-97040400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:97004200-97040400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:97005000-97018800	Strong transcription	Fetal Thymus	thymus
16	chr2:97006200-97041000	Strong transcription	Dnd41	blood
17	chr2:97006600-97040200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:97006600-97040400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:97006800-97018000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:97006800-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:97006800-97040600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:97006800-97040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:97007000-97040600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:97007200-97018200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr2:97007200-97023000	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr2:97007200-97023400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:97007200-97024000	Strong transcription	Fetal Stomach	stomach
28	chr2:97007200-97040000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:97007200-97040200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:97007200-97040400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:97007200-97041600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:97007400-97020400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:97007400-97023200	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr2:97007400-97023600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:97007400-97040200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:97007400-97040400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:97007400-97040600	Strong transcription	Thymus	Thymus
38	chr2:97007600-97016200	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:97008400-97018400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:97008400-97018400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:97008400-97018800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:97008400-97022800	Strong transcription	HepG2	liver
43	chr2:97008400-97033600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:97010600-97018200	Weak transcription	HSMM	muscle
45	chr2:97011000-97022600	Weak transcription	Fetal Lung	lung
46	chr2:97011200-97038000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:97011400-97018800	Weak transcription	Left Ventricle	heart
48	chr2:97011400-97038400	Strong transcription	GM12878-XiMat	blood
49	chr2:97011600-97024800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:97011600-97024800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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