Variant report

Variant	rs7581456
Chromosome Location	chr2:97475345-97475346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97472457..97476753-chr2:97477023..97479791,4	K562	blood:
2	chr2:97472571..97475766-chr2:97476385..97479674,4	K562	blood:
3	chr2:97302214..97304255-chr2:97474518..97477547,4	K562	blood:

Variant related genes	Relation type
ENSG00000273265	Chromatin interaction
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10187735	1.00[CHD][hapmap]
rs10188136	1.00[CHD][hapmap]
rs1047634	0.84[LWK][hapmap];0.88[MKK][hapmap];0.92[YRI][hapmap]
rs11886360	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs11892821	0.88[YRI][hapmap]
rs1878656	0.89[ASW][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35809433	1.00[CHD][hapmap]
rs6576985	0.80[AFR][1000 genomes]
rs6707008	0.92[YRI][hapmap]
rs6746421	0.82[AFR][1000 genomes]
rs6748234	0.83[MKK][hapmap];0.85[YRI][hapmap]
rs7340461	1.00[CHD][hapmap]
rs7565577	1.00[ASW][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7580748	1.00[CHD][hapmap]
rs7589082	0.94[ASW][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7608325	1.00[CHD][hapmap]

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	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:97454600-97481000	Weak transcription	NHEK	skin
4	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:97455200-97477600	Weak transcription	HSMMtube	muscle
6	chr2:97455400-97477200	Weak transcription	Psoas Muscle	Psoas
7	chr2:97455400-97480600	Weak transcription	Hela-S3	cervix
8	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:97463000-97476200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:97464600-97477600	Weak transcription	Osteobl	bone
11	chr2:97464600-97480800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:97465200-97477200	Weak transcription	NHDF-Ad	bronchial
13	chr2:97465200-97481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:97465400-97481200	Weak transcription	Small Intestine	intestine
15	chr2:97466000-97481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:97466800-97476400	Weak transcription	Liver	Liver
17	chr2:97466800-97478000	Weak transcription	NHLF	lung
18	chr2:97466800-97478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:97466800-97480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:97466800-97481000	Weak transcription	HMEC	breast
21	chr2:97467800-97475400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:97467800-97481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:97467800-97481000	Weak transcription	Fetal Brain Male	brain
24	chr2:97468000-97475600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:97468000-97476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:97468000-97480800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:97468000-97480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:97468000-97481000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:97468400-97477000	Weak transcription	Fetal Lung	lung
30	chr2:97468400-97480800	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:97469000-97475800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:97472200-97475600	Strong transcription	Fetal Intestine Small	intestine
33	chr2:97472200-97476000	Enhancers	Fetal Thymus	thymus
34	chr2:97472200-97476800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:97472400-97478400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:97472600-97475800	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:97472800-97477600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:97472800-97477600	Strong transcription	Fetal Stomach	stomach
39	chr2:97472800-97478000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr2:97472800-97478400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:97473000-97475800	Weak transcription	Primary T cells from cord blood	blood
42	chr2:97473000-97479600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:97473000-97481000	Weak transcription	Primary B cells from cord blood	blood
44	chr2:97473200-97480800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:97473200-97480800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:97473600-97476200	Enhancers	HepG2	liver
47	chr2:97473600-97481000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:97473800-97476600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:97473800-97481000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:97474000-97476400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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