Variant report

Variant	rs13194411
Chromosome Location	chr6:163777841-163777842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1016501	1.00[CHB][hapmap]
rs1016502	1.00[CHB][hapmap]
rs1040514	1.00[CHB][hapmap]
rs1230321	1.00[CHB][hapmap]
rs1234603	1.00[CHB][hapmap]
rs1234604	1.00[CHB][hapmap]
rs1336226	1.00[CHB][hapmap]
rs1619076	1.00[CHB][hapmap]
rs1629251	1.00[CHB][hapmap]
rs1737311	0.90[ASN][1000 genomes]
rs1737314	0.81[EUR][1000 genomes]
rs1737317	1.00[CHB][hapmap]
rs1737323	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1737329	1.00[CHB][hapmap]
rs1737333	1.00[CHB][hapmap]
rs1737600	1.00[CHB][hapmap]
rs1737601	1.00[CHB][hapmap]
rs1737603	1.00[CHB][hapmap]
rs1737604	1.00[CHB][hapmap]
rs1737606	1.00[CHB][hapmap]
rs1737607	1.00[CHB][hapmap]
rs1737611	1.00[CHB][hapmap]
rs1744924	1.00[CHB][hapmap]
rs1744925	1.00[CHB][hapmap]
rs1744926	1.00[CHB][hapmap]
rs1744927	1.00[CHB][hapmap]
rs1744933	1.00[CHB][hapmap]
rs1763999	0.90[ASN][1000 genomes]
rs1764008	1.00[CHB][hapmap]
rs2038147	1.00[CHB][hapmap]
rs2038148	1.00[CHB][hapmap]
rs2092406	1.00[CHB][hapmap]
rs2143070	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2179524	1.00[CHB][hapmap]
rs2321702	1.00[CHB][hapmap]
rs2745364	1.00[CHB][hapmap]
rs2757580	1.00[CHB][hapmap]
rs2757581	1.00[CHB][hapmap]
rs2757586	1.00[CHB][hapmap]
rs2757587	1.00[CHB][hapmap]
rs2757588	1.00[CHB][hapmap]
rs2757589	1.00[CHB][hapmap]
rs2759383	1.00[CHB][hapmap]
rs2759384	1.00[CHB][hapmap]
rs2759385	1.00[CHB][hapmap]
rs2759387	1.00[CHB][hapmap]
rs2759388	1.00[CHB][hapmap]
rs2759390	1.00[CHB][hapmap]
rs2759391	1.00[CHB][hapmap]
rs2759392	1.00[CHB][hapmap]
rs2759395	1.00[CHB][hapmap]
rs2784865	1.00[CHB][hapmap]
rs2784867	1.00[CHB][hapmap]
rs2784874	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2874602	1.00[CHB][hapmap]
rs4708997	1.00[CHB][hapmap]
rs4709712	0.90[ASN][1000 genomes]
rs6455902	1.00[CHB][hapmap]
rs6901488	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6905064	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914387	1.00[CHB][hapmap]
rs6920269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922650	0.90[ASN][1000 genomes]
rs6924130	1.00[CHB][hapmap]
rs6926584	1.00[CHB][hapmap]
rs721190	1.00[CHB][hapmap]
rs721191	1.00[CHB][hapmap]
rs735751	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7749189	1.00[CHB][hapmap]
rs7761088	1.00[CHB][hapmap]
rs7768051	1.00[CHB][hapmap]
rs783136	1.00[CHB][hapmap]
rs783138	1.00[CHB][hapmap]
rs783140	1.00[CHB][hapmap]
rs813640	1.00[CHB][hapmap]
rs814143	1.00[CHB][hapmap]
rs9295222	1.00[CHB][hapmap]
rs9295223	1.00[CHB][hapmap]
rs9295224	1.00[CHB][hapmap]
rs9346957	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347742	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9347743	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347754	1.00[CHB][hapmap]
rs9347755	1.00[CHB][hapmap]
rs9347756	1.00[CHB][hapmap]
rs9355427	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9356117	1.00[CHB][hapmap]
rs9365560	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365561	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365573	1.00[CHB][hapmap]

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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163772200-163778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:163772200-163778600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:163772400-163778800	Enhancers	Placenta	Placenta
4	chr6:163773600-163778000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr6:163775000-163778000	Enhancers	Hela-S3	cervix
6	chr6:163775000-163778400	Enhancers	Fetal Heart	heart
7	chr6:163775200-163778000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:163775200-163778000	Enhancers	NHEK	skin
9	chr6:163775200-163778200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:163775200-163778400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:163775200-163778400	Enhancers	Lung	lung
12	chr6:163775800-163778000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:163775800-163778000	Enhancers	Left Ventricle	heart
14	chr6:163775800-163778400	Enhancers	Right Atrium	heart
15	chr6:163776000-163778000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:163776000-163778000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:163776000-163778000	Enhancers	Colonic Mucosa	Colon
18	chr6:163776400-163783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:163776800-163778000	Weak transcription	Esophagus	oesophagus
20	chr6:163776800-163778400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr6:163776800-163778400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:163777000-163778000	Enhancers	Rectal Smooth Muscle	rectum
23	chr6:163777000-163778000	Enhancers	HSMM	muscle
24	chr6:163777000-163778200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:163777000-163778400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:163777000-163778800	Enhancers	Brain Cingulate Gyrus	brain
27	chr6:163777000-163779000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:163777200-163778000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:163777200-163778200	Enhancers	NHDF-Ad	bronchial
30	chr6:163777200-163778400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:163777200-163778400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:163777200-163778600	Enhancers	Brain Angular Gyrus	brain
33	chr6:163777400-163778400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:163777400-163778400	Enhancers	Adipose Nuclei	Adipose
35	chr6:163777400-163778400	Enhancers	HUVEC	blood vessel
36	chr6:163777400-163778600	Enhancers	Brain Anterior Caudate	brain
37	chr6:163777400-163778600	Enhancers	Brain Hippocampus Middle	brain
38	chr6:163777400-163780000	Weak transcription	Right Ventricle	heart
39	chr6:163777400-163786800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:163777400-163787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:163777400-163790000	Weak transcription	Spleen	Spleen
42	chr6:163777400-163791400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:163777600-163778000	Enhancers	Fetal Brain Male	brain
44	chr6:163777600-163778200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:163777600-163778400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:163777600-163778800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:163777600-163779400	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:163777600-163781400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:163777800-163778000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr6:163777800-163778000	Enhancers	Psoas Muscle	Psoas

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