Variant report

Variant	rs4257849
Chromosome Location	chr6:37410969-37410970
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37391738..37394075-chr6:37408772..37412559,3	K562	blood:
2	chr6:37395898..37398145-chr6:37408899..37411047,2	K562	blood:
3	chr6:37405964..37408218-chr6:37409386..37411340,2	K562	blood:
4	chr6:36953242..36956356-chr6:37409369..37411863,3	K562	blood:
5	chr6:37403638..37405474-chr6:37410855..37413567,2	K562	blood:
6	chr6:37410272..37412594-chr6:37412669..37415128,2	K562	blood:

Variant related genes	Relation type
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10692	0.86[ASN][1000 genomes]
rs11756941	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12212090	0.92[ASN][1000 genomes]
rs1224127	0.97[ASN][1000 genomes]
rs1224128	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1224129	0.94[ASN][1000 genomes]
rs1812186	0.83[ASN][1000 genomes]
rs2252920	0.97[ASN][1000 genomes]
rs2646926	0.94[ASN][1000 genomes]
rs2646933	0.95[ASN][1000 genomes]
rs2646934	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2776881	0.81[ASN][1000 genomes]
rs2776906	0.92[ASN][1000 genomes]
rs2776908	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2776910	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2776911	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2776916	0.85[ASN][1000 genomes]
rs2776918	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2797790	0.86[ASN][1000 genomes]
rs62406516	0.87[ASN][1000 genomes]
rs756202	0.85[ASN][1000 genomes]
rs904251	0.86[ASN][1000 genomes]
rs931649	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4257849	RP1-153P14.5	cis	Whole Blood	GTEx
rs4257849	RP1-153P14.8	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37401800-37414000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:37402200-37414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:37402200-37417800	Weak transcription	Small Intestine	intestine
4	chr6:37402200-37427800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:37402400-37411800	Weak transcription	Fetal Heart	heart
6	chr6:37402400-37413600	Weak transcription	HMEC	breast
7	chr6:37402800-37411800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:37403000-37434400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:37403200-37418400	Strong transcription	Fetal Stomach	stomach
10	chr6:37403200-37422000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:37403200-37423800	Strong transcription	Fetal Thymus	thymus
12	chr6:37403200-37432000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr6:37403200-37432600	Strong transcription	Placenta	Placenta
14	chr6:37403200-37433200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:37403400-37422000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:37403400-37423800	Strong transcription	K562	blood
17	chr6:37403400-37432000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:37403600-37411600	Weak transcription	Brain Germinal Matrix	brain
19	chr6:37404000-37414200	Weak transcription	Fetal Brain Male	brain
20	chr6:37404600-37411800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:37404800-37413800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:37404800-37413800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:37405000-37411800	Weak transcription	Hela-S3	cervix
24	chr6:37405000-37413400	Weak transcription	Colonic Mucosa	Colon
25	chr6:37405000-37414000	Weak transcription	Esophagus	oesophagus
26	chr6:37405000-37414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:37405200-37411800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr6:37405400-37413400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:37405600-37411400	Weak transcription	HSMM	muscle
30	chr6:37405800-37411600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:37405800-37413800	Weak transcription	Brain Substantia Nigra	brain
32	chr6:37406000-37411800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:37406000-37414000	Weak transcription	Gastric	stomach
34	chr6:37406200-37413400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:37406200-37414000	Weak transcription	Spleen	Spleen
36	chr6:37406600-37411800	Weak transcription	Brain Anterior Caudate	brain
37	chr6:37406600-37411800	Weak transcription	Fetal Lung	lung
38	chr6:37406600-37413600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:37406600-37413600	Weak transcription	Psoas Muscle	Psoas
40	chr6:37407000-37411600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:37407000-37411800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:37407000-37411800	Weak transcription	HSMMtube	muscle
43	chr6:37407600-37411800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:37407800-37417000	Strong transcription	Fetal Brain Female	brain
45	chr6:37408000-37411400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:37408200-37411800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:37408400-37412000	Weak transcription	A549	lung
48	chr6:37408600-37413800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:37408800-37412400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:37408800-37433400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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