Variant report

Variant	rs1975302
Chromosome Location	chr1:220306508-220306509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:220306380-220306541	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220305560..220308137-chr1:220308371..220312197,4	K562	blood:
2	chr1:220305864..220308361-chr1:220309464..220312197,2	K562	blood:

Variant related genes	Relation type
ENSG00000238576	TF binding region
IARS2	TF binding region
ENSG00000238576	Chromatin interaction
ENSG00000067704	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1039207	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1251331	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1251332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1809854	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2053252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2789791	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2808024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 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	chr1:220281400-220307200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:220281400-220307800	Weak transcription	Psoas Muscle	Psoas
6	chr1:220281400-220314400	Weak transcription	Fetal Brain Male	brain
7	chr1:220284600-220307400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:220284600-220307800	Weak transcription	Spleen	Spleen
9	chr1:220284600-220313000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:220284600-220313600	Weak transcription	Gastric	stomach
11	chr1:220284600-220324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:220288200-220324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:220288400-220310200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:220289600-220307800	Weak transcription	Thymus	Thymus
15	chr1:220289800-220307400	Weak transcription	HSMMtube	muscle
16	chr1:220289800-220307800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:220290400-220307800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:220290800-220307800	Weak transcription	Lung	lung
19	chr1:220291200-220314400	Weak transcription	NH-A	brain
20	chr1:220295200-220309000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:220295400-220310600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:220296000-220327600	Weak transcription	Colonic Mucosa	Colon
23	chr1:220296600-220323200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:220298200-220307800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:220298400-220307200	Weak transcription	Fetal Heart	heart
26	chr1:220298600-220321600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:220298800-220309000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:220298800-220310400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:220298800-220311600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:220298800-220334600	Strong transcription	Fetal Thymus	thymus
31	chr1:220299000-220309000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:220299000-220321200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:220299000-220322800	Weak transcription	Stomach Mucosa	stomach
34	chr1:220299200-220307200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:220300000-220310000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:220300000-220321000	Strong transcription	Fetal Intestine Large	intestine
37	chr1:220300000-220321600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:220301000-220307800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:220301000-220310200	Weak transcription	HUVEC	blood vessel
40	chr1:220301000-220314600	Weak transcription	Right Ventricle	heart
41	chr1:220301200-220307200	Weak transcription	NHDF-Ad	bronchial
42	chr1:220301200-220310600	Weak transcription	Hela-S3	cervix
43	chr1:220301400-220312600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:220302000-220307800	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:220302000-220309800	Weak transcription	Esophagus	oesophagus
46	chr1:220302000-220313000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:220302200-220306800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:220302200-220307200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:220302200-220307200	Weak transcription	HSMM	muscle
50	chr1:220302400-220307200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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