Variant report

Variant	rs1251332
Chromosome Location	chr1:220297062-220297063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220217537..220219750-chr1:220295098..220297083,2	K562	blood:
2	chr1:220292837..220298282-chr1:220298660..220304315,8	K562	blood:
3	chr1:220296550..220299024-chr1:220300584..220302127,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1039207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1251331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1809854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1975302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2789791	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2808024	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2808025	0.81[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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:220278600-220316200	Weak transcription	Pancreas	Pancrea
4	chr1:220281400-220300600	Weak transcription	NHLF	lung
5	chr1:220281400-220307200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:220281400-220307800	Weak transcription	Psoas Muscle	Psoas
7	chr1:220281400-220314400	Weak transcription	Fetal Brain Male	brain
8	chr1:220284600-220301400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:220284600-220305600	Weak transcription	Small Intestine	intestine
10	chr1:220284600-220307400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:220284600-220307800	Weak transcription	Spleen	Spleen
12	chr1:220284600-220313000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:220284600-220313600	Weak transcription	Gastric	stomach
14	chr1:220284600-220324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:220284800-220300000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:220284800-220301600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:220285400-220299600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:220288000-220300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:220288200-220324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:220288400-220310200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:220289200-220298600	Weak transcription	Osteobl	bone
22	chr1:220289200-220300000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:220289400-220299000	Weak transcription	GM12878-XiMat	blood
24	chr1:220289400-220301600	Weak transcription	Esophagus	oesophagus
25	chr1:220289600-220297200	Weak transcription	Right Ventricle	heart
26	chr1:220289600-220299000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:220289600-220301400	Weak transcription	Fetal Kidney	kidney
28	chr1:220289600-220301600	Weak transcription	Brain Substantia Nigra	brain
29	chr1:220289600-220307800	Weak transcription	Thymus	Thymus
30	chr1:220289800-220297200	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:220289800-220297800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:220289800-220299800	Weak transcription	A549	lung
33	chr1:220289800-220300400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:220289800-220300800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:220289800-220301800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:220289800-220306400	Weak transcription	NHEK	skin
37	chr1:220289800-220307400	Weak transcription	HSMMtube	muscle
38	chr1:220289800-220307800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:220290000-220299400	Weak transcription	Fetal Lung	lung
40	chr1:220290000-220299600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:220290200-220300000	Weak transcription	HUVEC	blood vessel
42	chr1:220290200-220300600	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:220290400-220297800	Weak transcription	Ovary	ovary
44	chr1:220290400-220299600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:220290400-220299800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:220290400-220300600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:220290400-220304600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:220290400-220307800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:220290600-220299600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:220290800-220307800	Weak transcription	Lung	lung

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