Variant report

Variant	rs2214679
Chromosome Location	chr7:106983418-106983419
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	chr7:106978639..106980974-chr7:106982232..106983801,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1015410	0.85[CEU][hapmap]
rs10249326	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10260250	0.92[CEU][hapmap]
rs10264687	0.82[EUR][1000 genomes]
rs1034734	0.83[EUR][1000 genomes]
rs12532293	0.83[EUR][1000 genomes]
rs2107762	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107763	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2158347	0.92[CEU][hapmap]
rs2189500	0.83[EUR][1000 genomes]
rs2237667	0.93[CEU][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2269970	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2299421	0.89[ASN][1000 genomes]
rs2395836	0.81[CEU][hapmap]
rs2395839	0.85[CEU][hapmap]
rs2520279	0.89[CEU][hapmap]
rs257376	0.85[CEU][hapmap]
rs257384	0.89[CEU][hapmap]
rs2712192	0.86[CEU][hapmap]
rs2712194	0.85[CEU][hapmap]
rs28718577	0.83[EUR][1000 genomes]
rs4727674	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4727675	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730221	0.89[CEU][hapmap]
rs57784799	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs57815418	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6466163	0.82[EUR][1000 genomes]
rs6466164	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466165	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6954422	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs6966616	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs6971864	0.93[CEU][hapmap]
rs7357192	0.91[EUR][1000 genomes]
rs7787113	0.86[CEU][hapmap]
rs7789927	0.86[EUR][1000 genomes]
rs7791955	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7794142	0.83[EUR][1000 genomes]
rs7794437	0.83[EUR][1000 genomes]
rs7794896	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7802375	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7804398	0.93[AFR][1000 genomes];0.93[EUR][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	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv608073	chr7:106960515-107063686	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:106946400-106983600	Weak transcription	Aorta	Aorta
5	chr7:106946400-106983600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:106946400-106999400	Weak transcription	Pancreas	Pancrea
7	chr7:106953800-106999400	Weak transcription	Left Ventricle	heart
8	chr7:106965400-106998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:106967600-106983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:106967800-106999800	Weak transcription	Fetal Heart	heart
11	chr7:106969200-106984200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:106973800-106996000	Weak transcription	Primary T cells from cord blood	blood
13	chr7:106973800-106998200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:106974000-106998000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:106974600-106999400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:106974800-106984200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:106979200-106984400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:106979600-106984200	Weak transcription	Dnd41	blood
19	chr7:106982400-106999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:106982800-106988000	Weak transcription	Fetal Kidney	kidney
21	chr7:106983200-106983800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:106983400-106984800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr7:106983400-106985200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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