Variant report

Variant	rs4251724
Chromosome Location	chr17:34143645-34143646
allele	A/T
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	chr17:34142536-34143875	K562	blood:	n/a	n/a
2	POLR2A	chr17:34143458-34143732	K562	blood:	n/a	n/a
3	PBX3	chr17:34143560-34143734	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:34134673..34137724-chr17:34141957..34146258,6	MCF-7	breast:
2	chr17:34142587..34144218-chr17:34175506..34177397,2	K562	blood:
3	chr17:34142052..34144215-chr17:34150005..34152807,2	K562	blood:
4	chr17:34142394..34144364-chr17:34157313..34159242,2	K562	blood:

Variant related genes	Relation type
ENSG00000267347	TF binding region
ENSG00000267578	Chromatin interaction
ENSG00000172660	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11650668	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11653282	0.91[JPT][hapmap]
rs11868785	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1994182	0.89[CEU][hapmap]
rs2107538	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs2280789	0.95[JPT][hapmap]
rs2291299	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2306630	0.95[JPT][hapmap]
rs28595279	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35517765	0.83[ASN][1000 genomes]
rs3760327	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3817655	0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3826404	0.89[CEU][hapmap]
rs4079183	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4239252	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4251703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4251710	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs4251719	0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4251737	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4251749	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4251769	0.95[JPT][hapmap]
rs4251787	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4251791	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4325615	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4795090	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4795096	0.95[JPT][hapmap]
rs4796105	1.00[CEU][hapmap]
rs4796116	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4796128	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6505496	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505498	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7211393	0.83[AFR][1000 genomes]
rs7215845	0.81[AMR][1000 genomes]
rs8069014	0.90[AFR][1000 genomes]
rs8080959	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9303692	0.95[JPT][hapmap]
rs9889874	0.95[JPT][hapmap]
rs9908928	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9909416	0.85[JPT][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4251724	RDM1	Cis_1M	lymphoblastoid	RTeQTL
rs4251724	RDM1	cis	Lymphoblastoid	GTEx
rs4251724	RDM1	cis	multi-tissue	Pritchard
rs4251724	TAF15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34137600-34149200	Weak transcription	Gastric	stomach
2	chr17:34137800-34143800	Weak transcription	Left Ventricle	heart
3	chr17:34137800-34144800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:34137800-34145000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:34137800-34149200	Weak transcription	Esophagus	oesophagus
6	chr17:34137800-34149800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:34137800-34152000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:34137800-34154000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:34138000-34144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:34138000-34144800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr17:34138000-34145200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:34138000-34146200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr17:34138000-34146800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:34138000-34149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:34138000-34153400	Weak transcription	Right Ventricle	heart
16	chr17:34138000-34164200	Weak transcription	Colonic Mucosa	Colon
17	chr17:34138200-34145800	Weak transcription	NHDF-Ad	bronchial
18	chr17:34138200-34149400	Weak transcription	HSMMtube	muscle
19	chr17:34138200-34149600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:34138200-34151600	Weak transcription	Fetal Heart	heart
21	chr17:34138400-34145200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr17:34138400-34146600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:34138600-34180800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:34138800-34144400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:34138800-34144600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr17:34138800-34184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:34139000-34144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr17:34139000-34144800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr17:34139000-34146200	Weak transcription	NH-A	brain
30	chr17:34139200-34144400	Weak transcription	HMEC	breast
31	chr17:34139200-34184200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:34139400-34144000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:34139400-34144000	Weak transcription	Fetal Lung	lung
34	chr17:34139400-34144000	Weak transcription	HSMM	muscle
35	chr17:34139400-34145000	Genic enhancers	Dnd41	blood
36	chr17:34139400-34146800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:34139400-34149400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr17:34139400-34163800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:34139400-34163800	Weak transcription	Spleen	Spleen
40	chr17:34139400-34177600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:34139600-34144600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:34139800-34144800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr17:34140000-34143800	Weak transcription	Ovary	ovary
44	chr17:34140000-34144400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr17:34140200-34144800	Weak transcription	NHEK	skin
46	chr17:34140600-34143800	Weak transcription	Lung	lung
47	chr17:34140600-34143800	Weak transcription	Pancreas	Pancrea
48	chr17:34140600-34148400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr17:34140800-34149600	Weak transcription	Fetal Brain Male	brain
50	chr17:34141000-34144200	Weak transcription	Stomach Mucosa	stomach

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