Variant report

Variant	rs936340
Chromosome Location	chr1:92040543-92040544
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92040278..92042604-chr1:92043296..92045130,2	K562	blood:
2	chr1:92038932..92042320-chr1:92059008..92062228,3	K562	blood:
3	chr1:92040469..92042505-chr1:92051071..92052577,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10493852	0.88[ASN][1000 genomes]
rs11800345	0.82[ASN][1000 genomes]
rs1192413	0.82[ASN][1000 genomes]
rs6693314	0.81[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92032200-92040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:92035800-92040600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:92035800-92041400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:92035800-92041600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:92035800-92047600	Weak transcription	Ovary	ovary
6	chr1:92035800-92048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:92036000-92041400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:92036000-92043800	Weak transcription	A549	lung
9	chr1:92036000-92043800	Weak transcription	K562	blood
10	chr1:92036000-92044600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:92036200-92041400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:92036200-92044400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:92036400-92051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:92036600-92040600	Weak transcription	Osteobl	bone
15	chr1:92036600-92041600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:92037200-92045600	Enhancers	Fetal Stomach	stomach
17	chr1:92037800-92041400	Weak transcription	Primary T cells from cord blood	blood
18	chr1:92037800-92041600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:92038000-92041400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:92038000-92041600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:92038000-92041600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:92038000-92041600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:92038000-92041600	Weak transcription	Fetal Thymus	thymus
24	chr1:92038000-92042000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:92038000-92042400	Weak transcription	Left Ventricle	heart
26	chr1:92038000-92042400	Weak transcription	Right Ventricle	heart
27	chr1:92038000-92044400	Weak transcription	Lung	lung
28	chr1:92038000-92045200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:92038200-92041400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:92038200-92041400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:92038200-92041600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:92038200-92041600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:92038200-92041600	Weak transcription	Placenta	Placenta
34	chr1:92038200-92049000	Weak transcription	Right Atrium	heart
35	chr1:92038400-92041200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:92038400-92041200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:92038400-92041600	Weak transcription	Primary B cells from cord blood	blood
38	chr1:92038400-92041800	Weak transcription	GM12878-XiMat	blood
39	chr1:92039600-92042200	Enhancers	Fetal Lung	lung
40	chr1:92039800-92040600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:92039800-92040800	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:92039800-92042200	Enhancers	Colon Smooth Muscle	Colon
43	chr1:92039800-92047200	Enhancers	Fetal Heart	heart
44	chr1:92040000-92042000	Enhancers	Rectal Smooth Muscle	rectum
45	chr1:92040000-92042800	Enhancers	NHLF	lung
46	chr1:92040200-92042000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:92040200-92042000	Enhancers	NHDF-Ad	bronchial
48	chr1:92040400-92041200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:92040400-92041800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:92040400-92042200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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