Variant report

Variant	rs10799556
Chromosome Location	chr1:224444628-224444629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11801211	0.92[ASW][hapmap];1.00[MEX][hapmap]
rs11802182	0.92[ASW][hapmap];1.00[MEX][hapmap]
rs11809710	0.93[ASW][hapmap]
rs11812007	0.80[ASW][hapmap]
rs12748669	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16845729	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs16845878	0.85[YRI][hapmap];0.92[AFR][1000 genomes]
rs16846212	0.92[ASW][hapmap];1.00[MEX][hapmap]
rs16846214	1.00[MEX][hapmap]
rs16846293	0.92[ASW][hapmap];1.00[MEX][hapmap]
rs16846339	0.92[ASW][hapmap];1.00[MEX][hapmap]
rs16847784	0.86[ASW][hapmap]
rs16847867	0.93[ASW][hapmap]
rs16847871	0.86[ASW][hapmap]
rs2404783	1.00[MEX][hapmap]
rs2896990	1.00[MEX][hapmap]
rs3754090	1.00[MEX][hapmap]
rs4146966	1.00[MEX][hapmap]
rs4653581	1.00[MEX][hapmap]
rs4654017	1.00[MEX][hapmap]
rs57027684	0.92[AFR][1000 genomes]
rs59236258	0.92[AFR][1000 genomes]
rs6682667	1.00[MEX][hapmap]
rs6694745	1.00[MEX][hapmap]
rs6704458	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514645	1.00[MEX][hapmap]
rs7521015	1.00[MEX][hapmap]
rs7525250	1.00[MEX][hapmap]
rs7530205	1.00[MEX][hapmap]
rs7531588	0.92[ASW][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap]
rs7534447	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224411600-224454400	Weak transcription	Psoas Muscle	Psoas
3	chr1:224412400-224473600	Weak transcription	HepG2	liver
4	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
5	chr1:224424600-224451600	Weak transcription	Aorta	Aorta
6	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
7	chr1:224424800-224454200	Weak transcription	HSMM	muscle
8	chr1:224425600-224470000	Weak transcription	NHDF-Ad	bronchial
9	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
11	chr1:224434400-224449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:224434400-224474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:224434400-224474800	Weak transcription	Fetal Brain Male	brain
14	chr1:224436800-224447600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:224436800-224449000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:224436800-224451000	Weak transcription	HMEC	breast
17	chr1:224436800-224452000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:224436800-224454400	Weak transcription	NHEK	skin
19	chr1:224436800-224473600	Weak transcription	Gastric	stomach
20	chr1:224437000-224449000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:224437000-224449000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:224437000-224449000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:224437000-224449000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:224437000-224450400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:224437000-224453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:224437000-224454000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:224437000-224454200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:224437000-224454200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:224437000-224454200	Weak transcription	NHLF	lung
30	chr1:224437000-224475200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:224437000-224476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:224437000-224479600	Weak transcription	Right Ventricle	heart
33	chr1:224437200-224450200	Weak transcription	A549	lung
34	chr1:224437200-224450400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:224437200-224453400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:224437200-224453800	Weak transcription	GM12878-XiMat	blood
37	chr1:224437200-224454000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:224437600-224450600	Weak transcription	Primary B cells from cord blood	blood
39	chr1:224437600-224453400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:224437600-224454000	Weak transcription	Brain Anterior Caudate	brain
41	chr1:224437600-224454000	Weak transcription	Ovary	ovary
42	chr1:224437600-224474800	Weak transcription	Colonic Mucosa	Colon
43	chr1:224437800-224447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:224437800-224447800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:224437800-224450200	Weak transcription	Fetal Brain Female	brain
46	chr1:224437800-224451800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:224437800-224453400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:224437800-224453400	Weak transcription	Fetal Lung	lung
49	chr1:224437800-224453400	Weak transcription	Left Ventricle	heart
50	chr1:224437800-224454200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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