Variant report

Variant	rs279701
Chromosome Location	chr7:121772450-121772451
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	chr7:121766737..121769191-chr7:121770279..121772578,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1206361	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1206362	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206371	0.82[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1206372	0.82[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1206375	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1206378	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12706384	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13223149	0.93[EUR][1000 genomes]
rs13225749	0.81[GIH][hapmap]
rs13232539	0.95[EUR][1000 genomes]
rs1405236	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1405237	1.00[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1725067	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2215358	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs279665	1.00[CEU][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs279670	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs279673	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs279676	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs279679	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs279680	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs279689	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs279700	0.82[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs279707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv608335	chr7:121749963-121779485	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
4	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr7:121743800-121776200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:121744600-121783200	Weak transcription	Lung	lung
7	chr7:121744800-121775200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:121744800-121776800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:121745600-121774000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:121747800-121775800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:121747800-121776200	Weak transcription	Fetal Brain Male	brain
12	chr7:121750000-121776600	Weak transcription	Psoas Muscle	Psoas
13	chr7:121750200-121773600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:121750200-121775400	Weak transcription	Gastric	stomach
15	chr7:121750400-121775800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:121750800-121775400	Weak transcription	Small Intestine	intestine
17	chr7:121753800-121776200	Weak transcription	NH-A	brain
18	chr7:121755200-121776200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:121755200-121776800	Weak transcription	Aorta	Aorta
20	chr7:121756600-121776600	Weak transcription	Brain Angular Gyrus	brain
21	chr7:121756600-121783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:121756600-121783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:121756800-121775400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:121756800-121776200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:121756800-121776200	Weak transcription	HUVEC	blood vessel
26	chr7:121756800-121776600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:121756800-121776800	Weak transcription	Brain Substantia Nigra	brain
28	chr7:121756800-121776800	Weak transcription	Right Ventricle	heart
29	chr7:121756800-121783000	Weak transcription	Fetal Intestine Large	intestine
30	chr7:121757200-121773600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:121757200-121776000	Weak transcription	Brain Germinal Matrix	brain
32	chr7:121757200-121776000	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:121757200-121776200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:121757200-121776400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:121757200-121776800	Weak transcription	Pancreas	Pancrea
36	chr7:121757800-121776200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:121758400-121776200	Weak transcription	Fetal Kidney	kidney
38	chr7:121758800-121776200	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:121758800-121776200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:121759200-121775600	Weak transcription	Brain Anterior Caudate	brain
41	chr7:121759600-121775600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:121760200-121772600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:121762800-121773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:121763600-121781200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:121764000-121776200	Weak transcription	Adipose Nuclei	Adipose
46	chr7:121764600-121775600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:121765000-121776600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:121766200-121776600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:121766600-121775400	Weak transcription	Fetal Lung	lung
50	chr7:121766600-121776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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