Variant report

Variant	rs4309551
Chromosome Location	chr2:10272673-10272674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10270635..10275854-chr2:10544682..10552679,11	K562	blood:
2	chr2:10272153..10274468-chr2:10296810..10299007,2	MCF-7	breast:
3	chr2:10272222..10273118-chr8:38240196..38241061,2	Hela-S3	cervix:
4	chr2:10272230..10274773-chr2:10544365..10546593,2	MCF-7	breast:
5	chr2:10272011..10278010-chr2:10546327..10552012,10	K562	blood:
6	chr2:10271027..10273752-chr6:16266812..16269282,2	K562	blood:
7	chr2:10272274..10274991-chr2:10298937..10301947,3	K562	blood:
8	chr2:10271666..10276241-chr2:10279595..10283078,5	MCF-7	breast:
9	chr2:10238235..10241032-chr2:10272026..10274970,3	K562	blood:
10	chr2:10272209..10275438-chr2:10333614..10336814,3	K562	blood:
11	chr2:10270582..10273384-chr2:10586380..10588752,3	K562	blood:
12	chr2:10197998..10200342-chr2:10271933..10274475,2	K562	blood:
13	chr2:10270582..10273384-chr2:10586472..10588752,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163009	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1130609	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs13392622	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110643	0.97[ASN][1000 genomes]
rs2241113	0.80[CHD][hapmap]
rs34455011	0.84[ASN][1000 genomes]
rs4668664	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs6432062	0.90[ASN][1000 genomes]
rs6432064	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6432065	0.97[ASN][1000 genomes]
rs6715884	0.97[ASN][1000 genomes]
rs6737932	0.96[ASN][1000 genomes]
rs6741290	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6759180	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs717886	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs718215	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs729917	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7577887	0.98[ASN][1000 genomes]
rs7603436	0.96[ASN][1000 genomes]
rs7604817	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv963870	chr2:10269043-10272937	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10263800-10277400	Weak transcription	Esophagus	oesophagus
2	chr2:10263800-10283600	Weak transcription	Spleen	Spleen
3	chr2:10264200-10281800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:10264600-10272800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:10265400-10273600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:10265400-10280000	Weak transcription	Fetal Kidney	kidney
7	chr2:10265400-10284000	Weak transcription	Placenta	Placenta
8	chr2:10265600-10272800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:10265600-10273800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:10265600-10275600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:10265600-10276000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:10266000-10275400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:10266200-10272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:10266200-10276000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:10266400-10273600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr2:10266600-10273000	Strong transcription	HMEC	breast
17	chr2:10267200-10273000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:10267400-10273000	Weak transcription	Liver	Liver
19	chr2:10267400-10273200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:10267400-10277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:10267600-10274800	Weak transcription	Fetal Lung	lung
22	chr2:10268800-10272800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:10268800-10274000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:10269000-10276000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:10269000-10277000	Weak transcription	HSMM	muscle
26	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:10269800-10272800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:10269800-10273000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:10269800-10274800	Weak transcription	HepG2	liver
30	chr2:10269800-10275400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:10269800-10285200	Weak transcription	Brain Germinal Matrix	brain
32	chr2:10270000-10272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:10270400-10273200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:10270400-10273800	Genic enhancers	Dnd41	blood
35	chr2:10270800-10274000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:10271400-10273800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:10271600-10273400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:10271600-10273400	Strong transcription	HUVEC	blood vessel
40	chr2:10271600-10273600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:10271600-10273800	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:10271800-10272800	Strong transcription	NHEK	skin
43	chr2:10271800-10273400	Genic enhancers	Fetal Intestine Small	intestine
44	chr2:10271800-10273800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:10271800-10274000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:10271800-10274000	Strong transcription	Fetal Stomach	stomach
47	chr2:10272000-10272800	Genic enhancers	Fetal Thymus	thymus
48	chr2:10272000-10272800	Strong transcription	Thymus	Thymus
49	chr2:10272000-10273600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:10272000-10273600	Strong transcription	NHLF	lung

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