Variant report

Variant	rs6505498
Chromosome Location	chr17:34130051-34130052
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	chr17:34121512..34124948-chr17:34126403..34130533,5	K562	blood:
2	chr17:34121512..34125542-chr17:34125807..34130533,7	K562	blood:

Variant related genes	Relation type
ENSG00000129270	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11650668	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11868785	0.85[ASN][1000 genomes]
rs2107538	0.81[AFR][1000 genomes]
rs2291299	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28595279	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35517765	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3760327	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3817655	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3826404	0.86[EUR][1000 genomes]
rs4079183	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4239252	0.85[EUR][1000 genomes]
rs4251703	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4251710	0.84[AFR][1000 genomes]
rs4251724	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4251749	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4251787	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4251791	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4325615	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4795087	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4795090	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4796116	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4796128	0.81[EUR][1000 genomes]
rs55858632	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6505496	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7215845	0.81[EUR][1000 genomes]
rs8066406	0.80[EUR][1000 genomes]
rs8069014	0.83[AFR][1000 genomes]
rs8080959	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9908928	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6505498	RDM1	Cis_1M	lymphoblastoid	RTeQTL
rs6505498	TAF15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34126800-34130800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr17:34126800-34132000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:34127000-34135400	Weak transcription	Liver	Liver
4	chr17:34127200-34130200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr17:34127200-34135000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:34127600-34135800	Weak transcription	Aorta	Aorta
7	chr17:34127800-34131600	Weak transcription	A549	lung
8	chr17:34127800-34131600	Weak transcription	Hela-S3	cervix
9	chr17:34127800-34134000	Weak transcription	NHEK	skin
10	chr17:34128800-34131600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:34128800-34132000	Weak transcription	Fetal Intestine Large	intestine
12	chr17:34128800-34135400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:34129000-34131600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:34129000-34131600	Weak transcription	HMEC	breast
15	chr17:34129000-34132000	Weak transcription	Brain Hippocampus Middle	brain
16	chr17:34129000-34133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:34129000-34134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:34129000-34134000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:34129000-34134000	Weak transcription	HSMM	muscle
20	chr17:34129000-34134200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:34129000-34134600	Weak transcription	NH-A	brain
22	chr17:34129000-34134800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:34129000-34135000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:34129000-34135200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:34129000-34135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr17:34129000-34135400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:34129000-34135400	Weak transcription	Spleen	Spleen
28	chr17:34129000-34135800	Weak transcription	Right Atrium	heart
29	chr17:34129200-34130800	Weak transcription	K562	blood
30	chr17:34129200-34131000	Weak transcription	Placenta	Placenta
31	chr17:34129200-34131400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:34129200-34131400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:34129200-34131400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:34129200-34131400	Weak transcription	Fetal Stomach	stomach
35	chr17:34129200-34131400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:34129200-34131600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:34129200-34131600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:34129200-34131600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr17:34129200-34131600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr17:34129200-34131600	Weak transcription	Fetal Heart	heart
41	chr17:34129200-34131600	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:34129200-34131600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:34129200-34131600	Weak transcription	Dnd41	blood
44	chr17:34129200-34131800	Weak transcription	Colon Smooth Muscle	Colon
45	chr17:34129200-34132000	Weak transcription	Thymus	Thymus
46	chr17:34129200-34132200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:34129200-34133200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:34129200-34134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:34129200-34135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:34129200-34135000	Weak transcription	Rectal Mucosa Donor 31	rectum

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