Variant report

Variant	rs12085937
Chromosome Location	chr1:213424105-213424106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213423806..213426691-chr1:213426764..213428693,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11120091	0.80[AFR][1000 genomes]
rs11120105	0.90[AFR][1000 genomes]
rs11120109	1.00[AFR][1000 genomes]
rs12060400	0.90[AFR][1000 genomes]
rs12061530	1.00[AFR][1000 genomes]
rs12064577	0.90[AFR][1000 genomes]
rs12064585	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12064974	0.90[AFR][1000 genomes]
rs12067919	0.90[AFR][1000 genomes]
rs12071832	0.90[AFR][1000 genomes]
rs12074538	0.90[AFR][1000 genomes]
rs12075302	0.90[AFR][1000 genomes]
rs12086415	0.90[AFR][1000 genomes]
rs12086986	0.90[AFR][1000 genomes]
rs12089456	1.00[AFR][1000 genomes]
rs17020280	0.90[AFR][1000 genomes]
rs17020291	0.90[AFR][1000 genomes]
rs17020314	1.00[YRI][hapmap]
rs17020352	1.00[AFR][1000 genomes]
rs17020381	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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1001201	chr1:213385827-213428021	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
2	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:213381600-213425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:213388000-213424600	Weak transcription	Gastric	stomach
5	chr1:213388200-213426200	Weak transcription	Lung	lung
6	chr1:213388200-213455400	Weak transcription	Placenta	Placenta
7	chr1:213391200-213439200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:213398600-213427200	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:213401200-213447400	Weak transcription	Small Intestine	intestine
10	chr1:213402800-213454800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:213405600-213440000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:213405600-213454800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:213405800-213436000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:213405800-213457600	Weak transcription	NHLF	lung
15	chr1:213406000-213450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:213406200-213445600	Weak transcription	NHDF-Ad	bronchial
17	chr1:213406200-213454800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:213409800-213424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:213412600-213452400	Weak transcription	Right Ventricle	heart
20	chr1:213414600-213425400	Weak transcription	NH-A	brain
21	chr1:213414600-213438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:213414600-213440000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:213414800-213445400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:213414800-213445600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:213415000-213440400	Weak transcription	Ovary	ovary
26	chr1:213415200-213440200	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:213415400-213424600	Weak transcription	Left Ventricle	heart
28	chr1:213415400-213433400	Weak transcription	K562	blood
29	chr1:213415400-213450200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:213415600-213447200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:213415600-213451000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:213415600-213453800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:213415800-213436400	Weak transcription	Osteobl	bone
34	chr1:213415800-213440000	Weak transcription	Aorta	Aorta
35	chr1:213415800-213440200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:213415800-213440200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:213416000-213425000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:213416000-213430400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:213416000-213440200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:213416400-213435600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:213416400-213435800	Weak transcription	Adipose Nuclei	Adipose
42	chr1:213416600-213434400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:213416800-213426000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:213416800-213436200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:213417000-213439200	Weak transcription	Primary T cells from cord blood	blood
46	chr1:213417200-213438400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:213417200-213440200	Weak transcription	Fetal Stomach	stomach
48	chr1:213417200-213453600	Weak transcription	HSMMtube	muscle
49	chr1:213418400-213449200	Weak transcription	Fetal Lung	lung
50	chr1:213419000-213440200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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