Variant report

Variant	rs2808385
Chromosome Location	chr1:212114860-212114861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212109098..212112880-chr1:212113218..212117116,6	K562	blood:
2	chr1:212087497..212090472-chr1:212113747..212115389,2	K562	blood:

Variant related genes	Relation type
ENSG00000233626	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10779568	0.82[EUR][1000 genomes]
rs10863939	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1578992	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1578993	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1806360	0.82[EUR][1000 genomes]
rs1933593	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2105162	0.83[ASN][1000 genomes]
rs2251398	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2358386	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2788133	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2788139	0.85[ASN][1000 genomes]
rs2788140	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808392	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2970601	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2993528	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2993534	0.81[ASN][1000 genomes]
rs2993541	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2993544	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3009985	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3010004	0.82[ASN][1000 genomes]
rs3010006	0.83[ASN][1000 genomes]
rs3738449	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59706922	0.85[ASN][1000 genomes]
rs6684814	0.85[ASN][1000 genomes]
rs7522330	0.81[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2808385	INTS7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212102600-212115200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:212102600-212120400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:212102800-212115000	Weak transcription	Fetal Thymus	thymus
4	chr1:212102800-212115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:212103000-212132600	Weak transcription	Gastric	stomach
6	chr1:212103200-212115000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:212103200-212115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:212103200-212115200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:212103200-212115200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:212103600-212115000	Weak transcription	NHEK	skin
11	chr1:212103600-212115400	Weak transcription	HMEC	breast
12	chr1:212103600-212132200	Weak transcription	Esophagus	oesophagus
13	chr1:212103800-212132200	Weak transcription	NHLF	lung
14	chr1:212104000-212117600	Weak transcription	HepG2	liver
15	chr1:212104200-212115000	Weak transcription	Lung	lung
16	chr1:212104800-212124400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:212106200-212148600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:212106400-212115000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:212106400-212132400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:212106400-212132600	Weak transcription	Right Ventricle	heart
21	chr1:212106400-212147800	Weak transcription	NH-A	brain
22	chr1:212107000-212115000	Weak transcription	Placenta	Placenta
23	chr1:212107000-212115200	Weak transcription	HSMM	muscle
24	chr1:212107000-212118000	Weak transcription	HSMMtube	muscle
25	chr1:212107000-212132800	Weak transcription	Pancreas	Pancrea
26	chr1:212107200-212116600	Weak transcription	HUVEC	blood vessel
27	chr1:212107400-212115000	Weak transcription	Fetal Brain Female	brain
28	chr1:212108000-212115000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:212108000-212132400	Weak transcription	Spleen	Spleen
30	chr1:212108200-212115000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:212108400-212115200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:212108400-212117800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:212108600-212115200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:212109200-212115200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:212109200-212118000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:212109200-212118000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:212109200-212118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:212109200-212132800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:212111200-212117000	Weak transcription	Brain Germinal Matrix	brain
40	chr1:212111200-212118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:212112000-212115000	Weak transcription	Thymus	Thymus
42	chr1:212112000-212115200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:212112000-212132200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:212112000-212170200	Weak transcription	Small Intestine	intestine
45	chr1:212112200-212115200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:212112200-212124600	Weak transcription	Aorta	Aorta
47	chr1:212112400-212115000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:212112400-212115000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:212112400-212115000	Weak transcription	Osteobl	bone
50	chr1:212112400-212115200	Weak transcription	Fetal Lung	lung

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