Variant report

Variant	rs6944090
Chromosome Location	chr7:50573140-50573141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10249982	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs10274275	0.85[EUR][1000 genomes]
rs1037350	0.85[ASN][1000 genomes]
rs10499691	0.85[ASN][1000 genomes]
rs1107742	0.91[ASN][1000 genomes]
rs1107743	0.90[CHB][hapmap];0.92[CHD][hapmap];0.91[ASN][1000 genomes]
rs11575282	0.90[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs11575286	0.90[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs11575313	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs11575321	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs11575322	0.90[CHB][hapmap];0.85[CHD][hapmap];0.85[ASN][1000 genomes]
rs11575338	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs11575349	0.85[ASN][1000 genomes]
rs11575410	0.91[ASN][1000 genomes]
rs11575442	0.91[ASN][1000 genomes]
rs11575521	0.91[ASN][1000 genomes]
rs11575548	0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[ASN][1000 genomes]
rs11575553	0.81[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs11575562	0.85[ASN][1000 genomes]
rs11976368	0.85[ASN][1000 genomes]
rs11978591	0.85[ASN][1000 genomes]
rs12535064	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs12538830	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs1349491	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs1451366	0.85[EUR][1000 genomes]
rs1451368	0.85[EUR][1000 genomes]
rs1470748	0.91[ASN][1000 genomes]
rs17133817	0.85[ASN][1000 genomes]
rs17133826	0.85[ASN][1000 genomes]
rs17553036	0.85[ASN][1000 genomes]
rs17634476	0.85[ASN][1000 genomes]
rs17634717	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs17634958	0.90[CHB][hapmap];0.92[CHD][hapmap];0.91[ASN][1000 genomes]
rs17635123	0.90[CHB][hapmap];0.91[ASN][1000 genomes]
rs1901311	0.85[EUR][1000 genomes]
rs1901312	0.85[EUR][1000 genomes]
rs2100279	0.85[ASN][1000 genomes]
rs2100280	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2122817	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs2122818	0.85[EUR][1000 genomes]
rs2122821	0.85[EUR][1000 genomes]
rs2167364	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs2167366	0.84[EUR][1000 genomes]
rs2242041	0.81[CHB][hapmap];0.85[CHD][hapmap];0.85[ASN][1000 genomes]
rs2329367	0.90[CHB][hapmap];0.91[ASN][1000 genomes]
rs2329369	0.91[ASN][1000 genomes]
rs2876826	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876830	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs3735274	0.90[CEU][hapmap]
rs3779081	0.91[ASN][1000 genomes]
rs3807553	0.90[CHB][hapmap];0.85[CHD][hapmap];0.85[ASN][1000 genomes]
rs4602840	0.91[ASN][1000 genomes]
rs56056130	0.85[ASN][1000 genomes]
rs6592963	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs6592973	0.84[EUR][1000 genomes]
rs6952023	0.85[EUR][1000 genomes]
rs6959427	0.81[ASN][1000 genomes]
rs6962370	0.81[ASN][1000 genomes]
rs6963534	0.85[EUR][1000 genomes]
rs6967361	0.84[EUR][1000 genomes]
rs6970468	0.85[EUR][1000 genomes]
rs6974583	0.82[EUR][1000 genomes]
rs73117270	0.91[ASN][1000 genomes]
rs73119230	0.91[ASN][1000 genomes]
rs73119239	0.91[ASN][1000 genomes]
rs73119245	0.91[ASN][1000 genomes]
rs73119251	0.91[ASN][1000 genomes]
rs73121271	0.91[ASN][1000 genomes]
rs73121277	0.85[EUR][1000 genomes]
rs73121282	0.89[ASN][1000 genomes]
rs73121285	0.89[ASN][1000 genomes]
rs73121287	0.89[ASN][1000 genomes]
rs73121290	0.89[ASN][1000 genomes]
rs73121292	0.89[ASN][1000 genomes]
rs73123220	0.85[ASN][1000 genomes]
rs73123247	0.85[ASN][1000 genomes]
rs73123249	0.85[ASN][1000 genomes]
rs73123251	0.85[ASN][1000 genomes]
rs73123254	0.85[ASN][1000 genomes]
rs73123257	0.85[ASN][1000 genomes]
rs73123261	0.85[ASN][1000 genomes]
rs73123264	0.85[ASN][1000 genomes]
rs73123266	0.85[ASN][1000 genomes]
rs73123283	0.83[ASN][1000 genomes]
rs73123285	0.83[ASN][1000 genomes]
rs73123291	0.83[ASN][1000 genomes]
rs73125208	0.81[ASN][1000 genomes]
rs73125215	0.81[ASN][1000 genomes]
rs73125225	0.81[ASN][1000 genomes]
rs73695642	0.85[ASN][1000 genomes]
rs73695660	0.85[ASN][1000 genomes]
rs73695663	0.85[ASN][1000 genomes]
rs7777600	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7807564	0.85[EUR][1000 genomes]
rs7809234	1.00[JPT][hapmap]
rs896308	0.91[ASN][1000 genomes]
rs9918591	0.85[EUR][1000 genomes]
rs9918702	0.90[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50560800-50581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:50565200-50609000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:50566200-50576000	Weak transcription	Colonic Mucosa	Colon
5	chr7:50566200-50581200	Strong transcription	Fetal Intestine Small	intestine
6	chr7:50568200-50574400	Enhancers	Fetal Muscle Leg	muscle
7	chr7:50569000-50592800	Weak transcription	HepG2	liver
8	chr7:50570800-50576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:50571000-50573200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:50571000-50573200	Enhancers	HSMM	muscle
11	chr7:50571000-50576000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:50571000-50580200	Weak transcription	Pancreas	Pancrea
13	chr7:50571000-50582400	Weak transcription	Right Atrium	heart
14	chr7:50571200-50576000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:50571800-50576200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:50572400-50573200	Enhancers	Adipose Nuclei	Adipose
17	chr7:50572400-50574400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:50572400-50577000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr7:50572600-50573200	Enhancers	HSMMtube	muscle
20	chr7:50572600-50573800	Enhancers	Fetal Muscle Trunk	muscle
21	chr7:50572600-50574600	Enhancers	Psoas Muscle	Psoas
22	chr7:50572600-50575400	Weak transcription	Fetal Intestine Large	intestine
23	chr7:50572800-50573200	Enhancers	Brain Substantia Nigra	brain
24	chr7:50572800-50574400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:50572800-50574600	Enhancers	Fetal Thymus	thymus
26	chr7:50573000-50574800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:50573000-50575600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:50573000-50577000	Weak transcription	Muscle Satellite Cultured Cells	--

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