Variant report

Variant	rs2301719
Chromosome Location	chr7:27070597-27070598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27061277-27071265..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
2	7:27061277-27071265..7:27238414-27242313	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000078399	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10276952	0.91[ASN][1000 genomes]
rs11977871	0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs12667139	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12673984	0.90[ASN][1000 genomes]
rs12674308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12700771	0.81[ASN][1000 genomes]
rs12700785	0.95[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs1560621	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17426751	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17426772	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17426932	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes]
rs17427218	0.94[ASN][1000 genomes]
rs17436757	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17436813	0.84[AMR][1000 genomes]
rs17436827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17437154	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17448689	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17448911	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17471054	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs213516	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2259141	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs2693660	0.81[ASN][1000 genomes]
rs2693661	0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2693669	0.81[ASN][1000 genomes]
rs28357116	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3801817	0.88[GIH][hapmap];1.00[MKK][hapmap]
rs62446163	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62446164	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62448205	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62454246	0.84[ASN][1000 genomes]
rs62454250	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62454362	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62454371	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62454372	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62454374	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62454375	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62457399	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62457403	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62457404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948446	0.91[ASN][1000 genomes]
rs6953314	0.90[ASN][1000 genomes]
rs706015	0.81[ASN][1000 genomes]
rs774249	0.81[ASN][1000 genomes]
rs774250	0.81[ASN][1000 genomes]
rs774251	0.81[ASN][1000 genomes]
rs774253	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs813501	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs954051	0.89[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv967485	chr7:27066773-27082518	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27068200-27071600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:27068400-27071800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr7:27068600-27071600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:27068800-27071200	Weak transcription	Osteobl	bone
5	chr7:27068800-27071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:27069200-27070600	Weak transcription	Stomach Mucosa	stomach
7	chr7:27069600-27071200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:27069800-27070800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:27069800-27070800	Enhancers	Fetal Muscle Leg	muscle
10	chr7:27069800-27071600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:27069800-27071600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:27069800-27071800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:27070200-27070600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:27070200-27070600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:27070200-27070600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr7:27070200-27070600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:27070200-27070800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:27070200-27070800	Enhancers	Thymus	Thymus
19	chr7:27070200-27071000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:27070200-27071200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:27070200-27071400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:27070200-27071800	Enhancers	Fetal Thymus	thymus
23	chr7:27070200-27072000	Enhancers	Hela-S3	cervix
24	chr7:27070200-27072200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:27070200-27072800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr7:27070200-27072800	Enhancers	NHEK	skin
27	chr7:27070200-27073000	Enhancers	HSMMtube	muscle
28	chr7:27070400-27070600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:27070400-27070600	Enhancers	Fetal Kidney	kidney
30	chr7:27070400-27071200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:27070400-27071200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:27070400-27071400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:27070400-27071400	Weak transcription	HSMM	muscle
34	chr7:27070400-27071400	Enhancers	NHDF-Ad	bronchial
35	chr7:27070400-27072800	Enhancers	Primary monocytes fromperipheralblood	blood

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