Variant report

Variant	rs11164971
Chromosome Location	chr1:92042245-92042246
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92041941..92043572-chr1:92053142..92055519,2	K562	blood:
2	chr1:92037546..92039285-chr1:92042133..92044413,2	K562	blood:
3	chr1:92040278..92042604-chr1:92043296..92045130,2	K562	blood:
4	chr1:92040658..92042372-chr1:92120561..92123139,2	K562	blood:
5	chr1:92038932..92042320-chr1:92059008..92062228,3	K562	blood:
6	chr1:92041439..92043572-chr1:92053953..92055519,2	K562	blood:
7	chr1:92040469..92042505-chr1:92051071..92052577,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10493854	0.87[ASN][1000 genomes]
rs10874796	0.89[ASN][1000 genomes]
rs11165002	0.89[ASN][1000 genomes]
rs11165008	0.89[ASN][1000 genomes]
rs12048543	0.89[ASN][1000 genomes]
rs12059556	0.87[ASN][1000 genomes]
rs17503335	0.81[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1848435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658235	0.89[ASN][1000 genomes]
rs56034708	0.85[ASN][1000 genomes]
rs6604044	0.87[ASN][1000 genomes]
rs6604045	0.89[ASN][1000 genomes]
rs6604046	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6677520	0.89[ASN][1000 genomes]
rs6681573	0.87[ASN][1000 genomes]
rs6681883	0.87[ASN][1000 genomes]
rs6686665	0.87[ASN][1000 genomes]
rs6688706	0.87[ASN][1000 genomes]
rs6691704	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92035800-92047600	Weak transcription	Ovary	ovary
2	chr1:92035800-92048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:92036000-92043800	Weak transcription	A549	lung
4	chr1:92036000-92043800	Weak transcription	K562	blood
5	chr1:92036000-92044600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:92036200-92044400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:92036400-92051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:92037200-92045600	Enhancers	Fetal Stomach	stomach
9	chr1:92038000-92042400	Weak transcription	Left Ventricle	heart
10	chr1:92038000-92042400	Weak transcription	Right Ventricle	heart
11	chr1:92038000-92044400	Weak transcription	Lung	lung
12	chr1:92038000-92045200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:92038200-92049000	Weak transcription	Right Atrium	heart
14	chr1:92039800-92047200	Enhancers	Fetal Heart	heart
15	chr1:92040000-92042800	Enhancers	NHLF	lung
16	chr1:92040600-92042800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:92041200-92043000	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:92041200-92043200	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:92041400-92042400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:92041400-92042400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:92041400-92042400	Flanking Active TSS	Dnd41	blood
22	chr1:92041400-92042600	Enhancers	Primary T cells from cord blood	blood
23	chr1:92041400-92042800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:92041400-92042800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:92041400-92042800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:92041400-92043000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:92041400-92043000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:92041600-92042400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr1:92041600-92042400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:92041600-92042400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:92041600-92042400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:92041600-92042600	Enhancers	Primary B cells from cord blood	blood
33	chr1:92041600-92042600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:92041600-92042800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:92041600-92042800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:92041600-92042800	Enhancers	Fetal Thymus	thymus
37	chr1:92041800-92042800	Enhancers	GM12878-XiMat	blood
38	chr1:92041800-92043400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:92041800-92051200	Weak transcription	Fetal Brain Male	brain
40	chr1:92042000-92042600	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:92042000-92043400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:92042000-92043400	Weak transcription	NHDF-Ad	bronchial
43	chr1:92042000-92043800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:92042000-92048200	Weak transcription	Fetal Kidney	kidney
45	chr1:92042200-92042600	Weak transcription	Fetal Lung	lung
46	chr1:92042200-92043200	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:92042200-92043400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:92042200-92043600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:92042200-92044200	Enhancers	Stomach Smooth Muscle	stomach
50	chr1:92042200-92047600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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