Variant report

Variant	rs2063849
Chromosome Location	chr1:180806525-180806526
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	chr1:180806280..180808787-chr1:180815161..180816813,2	K562	blood:
2	chr1:180599613..180601233-chr1:180805149..180807716,2	K562	blood:

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10732273	1.00[AFR][1000 genomes]
rs1400038	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1515960	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2944260	1.00[AFR][1000 genomes]
rs2944263	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs3002120	1.00[AFR][1000 genomes]
rs3002122	0.87[AFR][1000 genomes]
rs3013635	1.00[AFR][1000 genomes]
rs3013636	1.00[AFR][1000 genomes]
rs3845408	1.00[AFR][1000 genomes]
rs3856061	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4651076	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4652534	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6683252	1.00[AFR][1000 genomes]
rs7531753	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7535885	1.00[AFR][1000 genomes]
rs7548808	1.00[AFR][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	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180755400-180820400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:180756800-180810200	Weak transcription	Fetal Brain Male	brain
4	chr1:180763600-180806800	Weak transcription	Psoas Muscle	Psoas
5	chr1:180767400-180820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:180768000-180812000	Weak transcription	Pancreas	Pancrea
7	chr1:180771000-180813600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:180772000-180823200	Weak transcription	Fetal Stomach	stomach
9	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:180774000-180806800	Weak transcription	Placenta	Placenta
12	chr1:180775000-180831600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:180779000-180807400	Weak transcription	Right Ventricle	heart
14	chr1:180779800-180850800	Weak transcription	Small Intestine	intestine
15	chr1:180781800-180807000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:180781800-180810400	Weak transcription	HSMM	muscle
17	chr1:180782200-180817800	Weak transcription	Lung	lung
18	chr1:180782600-180809000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:180784800-180811600	Weak transcription	HSMMtube	muscle
20	chr1:180789600-180809200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:180791400-180822600	Weak transcription	Fetal Heart	heart
22	chr1:180793200-180810800	Weak transcription	Osteobl	bone
23	chr1:180796200-180807800	Weak transcription	Thymus	Thymus
24	chr1:180796400-180851000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:180796600-180827200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:180796800-180817400	Weak transcription	HepG2	liver
27	chr1:180796800-180827400	Weak transcription	NHEK	skin
28	chr1:180796800-180831600	Weak transcription	A549	lung
29	chr1:180797000-180822000	Weak transcription	HUVEC	blood vessel
30	chr1:180800200-180810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:180800200-180811400	Weak transcription	Ovary	ovary
32	chr1:180802400-180808000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:180802400-180810200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:180802400-180811600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:180802400-180811600	Weak transcription	Fetal Lung	lung
36	chr1:180802600-180833000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:180802600-180834600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:180802800-180823200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:180803000-180822800	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:180803600-180807200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:180803600-180843200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:180804000-180807600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:180804200-180806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr1:180804200-180808400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:180804200-180808600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:180804600-180807200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:180804600-180810600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:180804800-180810400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:180804800-180842800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:180805000-180807800	Weak transcription	HMEC	breast

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