Variant report

Variant	rs2492748
Chromosome Location	chr1:212478047-212478048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212458610..212460865-chr1:212476520..212479073,2	K562	blood:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10436963	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2120770	0.86[YRI][hapmap]
rs351391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs351399	1.00[MKK][hapmap];0.86[YRI][hapmap]
rs60269904	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1806604	chr1:212468974-212505860	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv945282	chr1:212475737-212482732	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212460200-212489200	Weak transcription	Spleen	Spleen
2	chr1:212464200-212483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:212464800-212480200	Weak transcription	Lung	lung
4	chr1:212464800-212483800	Weak transcription	Pancreas	Pancrea
5	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
6	chr1:212465000-212480200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:212465400-212482800	Weak transcription	Fetal Lung	lung
8	chr1:212465800-212483200	Weak transcription	Dnd41	blood
9	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:212466600-212479400	Weak transcription	NHEK	skin
11	chr1:212466600-212482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:212467000-212480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:212467200-212481800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr1:212467400-212480200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:212467400-212482800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:212467400-212526000	Weak transcription	A549	lung
18	chr1:212467600-212482800	Weak transcription	HepG2	liver
19	chr1:212468800-212478200	Weak transcription	Fetal Intestine Small	intestine
20	chr1:212469000-212480200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:212469000-212483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:212469000-212483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:212470000-212481800	Weak transcription	Thymus	Thymus
24	chr1:212470400-212481200	Weak transcription	Primary T cells from cord blood	blood
25	chr1:212470800-212482600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:212472600-212478200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:212473400-212483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:212473600-212478800	Weak transcription	Small Intestine	intestine
29	chr1:212474200-212484000	Weak transcription	Primary B cells from cord blood	blood
30	chr1:212474200-212502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:212474600-212482400	Weak transcription	Left Ventricle	heart
32	chr1:212474600-212482600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:212474600-212489200	Weak transcription	Gastric	stomach
34	chr1:212474800-212482400	Weak transcription	Right Atrium	heart
35	chr1:212474800-212483400	Weak transcription	Right Ventricle	heart
36	chr1:212475200-212480600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:212475200-212482400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:212475200-212483000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:212475200-212483200	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:212475200-212483800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:212475200-212487000	Weak transcription	HSMMtube	muscle
42	chr1:212475400-212480200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:212475400-212483600	Weak transcription	Brain Angular Gyrus	brain
44	chr1:212475400-212487000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:212475600-212483400	Weak transcription	Adipose Nuclei	Adipose
46	chr1:212475600-212483400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:212475600-212488600	Weak transcription	Fetal Heart	heart
48	chr1:212476000-212483000	Weak transcription	Brain Substantia Nigra	brain
49	chr1:212476600-212481200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:212476800-212481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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