Variant report

Variant	rs4251703
Chromosome Location	chr17:34134958-34134959
allele	C/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	RCOR1	chr17:34134728-34135103	K562	blood:	n/a	n/a
2	JUND	chr17:34134753-34135074	K562	blood:	n/a	n/a
3	FOS	chr17:34134398-34135081	HUVEC	blood vessel:	n/a	chr17:34134597-34134608
4	EP300	chr17:34134765-34135010	K562	blood:	n/a	n/a
5	HCFC1	chr17:34134341-34137752	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr17:34134902-34138247	A549	lung:	n/a	chr17:34136058-34136071 chr17:34136054-34136070 chr17:34136056-34136066 chr17:34136053-34136071 chr17:34136059-34136068
7	RCOR1	chr17:34134828-34135062	K562	blood:	n/a	n/a
8	ATF1	chr17:34134787-34135085	K562	blood:	n/a	n/a
9	MAZ	chr17:34134059-34137565	IMR90	lung:	n/a	n/a
10	SREBP1	chr17:34134666-34137123	GM12878	blood:	n/a	n/a
11	NR2F2	chr17:34134750-34135025	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:34134673..34137724-chr17:34141957..34146258,6	MCF-7	breast:
2	chr17:33987664..33989380-chr17:34132554..34135013,3	K562	blood:
3	chr17:33913630..33915202-chr17:34134873..34137603,2	K562	blood:
4	chr17:34121885..34124383-chr17:34134953..34137697,3	MCF-7	breast:
5	chr17:33913527..33915363-chr17:34134013..34136643,3	MCF-7	breast:
6	chr17:34101120..34102648-chr17:34132276..34135170,2	MCF-7	breast:
7	chr17:33892195..33894200-chr17:34134782..34137507,2	K562	blood:

Variant related genes	Relation type
TAF15	TF binding region
ENSG00000267347	Chromatin interaction
ENSG00000129270	Chromatin interaction
ENSG00000006125	Chromatin interaction
ENSG00000242660	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11650668	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11653282	0.85[JPT][hapmap]
rs11868785	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1994182	0.81[CEU][hapmap]
rs2107538	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2280789	0.90[JPT][hapmap]
rs2291299	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2306630	0.90[JPT][hapmap]
rs28595279	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35517765	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3760327	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3817655	0.81[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3826404	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4079183	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4239252	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4251710	0.82[YRI][hapmap];0.89[AFR][1000 genomes]
rs4251719	0.90[JPT][hapmap]
rs4251724	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]
rs4251749	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4251769	0.90[JPT][hapmap]
rs4251787	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4251791	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4325615	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4795087	0.81[EUR][1000 genomes]
rs4795090	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4795096	0.90[JPT][hapmap]
rs4796105	0.90[CEU][hapmap]
rs4796116	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4796128	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs55858632	0.81[EUR][1000 genomes]
rs6505496	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6505498	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7211393	0.85[EUR][1000 genomes]
rs7215845	0.86[EUR][1000 genomes]
rs8066406	0.83[EUR][1000 genomes]
rs8069014	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs8080959	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9303692	0.90[JPT][hapmap]
rs9889874	0.90[JPT][hapmap]
rs9908928	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4251703	RDM1	cis	Lymphoblastoid	GTEx
rs4251703	CCL5	cis	Lymphoblastoid	GTEx
rs4251703	RDM1	Cis_1M	lymphoblastoid	RTeQTL
rs4251703	TAF15	Cis_1M	lymphoblastoid	RTeQTL
rs4251703	RAD52B	cis	multi-tissue	Pritchard

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34127000-34135400	Weak transcription	Liver	Liver
2	chr17:34127200-34135000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:34127600-34135800	Weak transcription	Aorta	Aorta
4	chr17:34128800-34135400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:34129000-34135000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:34129000-34135200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:34129000-34135200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:34129000-34135400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:34129000-34135400	Weak transcription	Spleen	Spleen
10	chr17:34129000-34135800	Weak transcription	Right Atrium	heart
11	chr17:34129200-34135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr17:34129200-34135000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:34129200-34135200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr17:34129200-34135200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr17:34129200-34135200	Weak transcription	Colonic Mucosa	Colon
16	chr17:34129200-34135400	Weak transcription	Primary T cells from cord blood	blood
17	chr17:34129200-34135400	Weak transcription	Adipose Nuclei	Adipose
18	chr17:34129200-34135400	Weak transcription	Brain Anterior Caudate	brain
19	chr17:34129200-34135400	Weak transcription	Brain Substantia Nigra	brain
20	chr17:34129200-34135600	Weak transcription	Brain Germinal Matrix	brain
21	chr17:34129200-34135600	Weak transcription	HSMMtube	muscle
22	chr17:34129200-34135800	Weak transcription	Esophagus	oesophagus
23	chr17:34129400-34135400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr17:34129400-34135400	Weak transcription	Lung	lung
25	chr17:34132000-34135200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr17:34132000-34135400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr17:34132200-34135000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr17:34132200-34135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr17:34132200-34135000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr17:34132200-34135000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr17:34132200-34135000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:34132200-34135000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:34132200-34135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:34132200-34135200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:34132200-34135200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr17:34132200-34135200	Weak transcription	Fetal Muscle Leg	muscle
37	chr17:34132200-34135400	Weak transcription	Fetal Intestine Large	intestine
38	chr17:34132200-34135400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr17:34132200-34135600	Weak transcription	Fetal Heart	heart
40	chr17:34132200-34135600	Weak transcription	Placenta	Placenta
41	chr17:34132400-34135400	Weak transcription	Brain Hippocampus Middle	brain
42	chr17:34132400-34135400	Weak transcription	GM12878-XiMat	blood
43	chr17:34132400-34135600	Weak transcription	Colon Smooth Muscle	Colon
44	chr17:34132400-34135600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:34132800-34135200	Enhancers	HepG2	liver
46	chr17:34133200-34135000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr17:34133200-34135600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:34133600-34135000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:34133600-34135200	Enhancers	Hela-S3	cervix
50	chr17:34133600-34135400	Enhancers	HUVEC	blood vessel

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