Variant report

Variant	rs4257518
Chromosome Location	chr3:101281709-101281710
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101227907..101233845-chr3:101279162..101282528,7	K562	blood:
2	chr3:101277954..101280498-chr3:101281065..101283887,2	MCF-7	breast:
3	chr3:101279766..101282378-chr3:101395488..101397376,2	MCF-7	breast:
4	chr3:101230728..101233883-chr3:101278974..101284573,9	K562	blood:
5	chr3:101280171..101282152-chr3:101404234..101406900,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138468	Chromatin interaction
ENSG00000066422	Chromatin interaction
ENSG00000114391	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1609159	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17345528	0.93[MKK][hapmap]
rs3804775	0.93[MKK][hapmap]
rs7622940	0.83[ASW][hapmap];0.82[EUR][1000 genomes]
rs9817043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997739	0.89[MKK][hapmap];0.80[YRI][hapmap]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4257518	ZBTB11	cis	cerebellum	SCAN
rs4257518	SENP7	Cis_1M	lymphoblastoid	RTeQTL
rs4257518	NIT2	cis	parietal	SCAN
rs4257518	FAM55C	cis	lymphoblastoid	seeQTL
rs4257518	FAM55C	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101280000-101281800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:101280000-101281800	Active TSS	Psoas Muscle	Psoas
3	chr3:101280000-101281800	Active TSS	A549	lung
4	chr3:101280000-101282000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:101280200-101281800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:101280200-101281800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:101280200-101281800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:101280200-101281800	Active TSS	Colonic Mucosa	Colon
9	chr3:101280200-101281800	Active TSS	Fetal Muscle Leg	muscle
10	chr3:101280200-101281800	Active TSS	Placenta	Placenta
11	chr3:101280200-101281800	Active TSS	Left Ventricle	heart
12	chr3:101280200-101281800	Active TSS	Right Ventricle	heart
13	chr3:101280200-101282200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:101280200-101282200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:101280200-101282200	Active TSS	NHLF	lung
16	chr3:101280200-101282400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr3:101280400-101281800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr3:101280400-101281800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:101280400-101281800	Active TSS	HSMMtube	muscle
20	chr3:101280400-101282000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:101280400-101282200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:101280400-101282200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:101280400-101282400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:101280400-101282600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:101280400-101282800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:101280600-101282000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr3:101280800-101281800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr3:101280800-101281800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr3:101280800-101281800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr3:101280800-101282000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:101281000-101282000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:101281000-101282200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr3:101281200-101281800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr3:101281200-101281800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr3:101281200-101282000	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr3:101281200-101282400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:101281400-101281800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr3:101281400-101281800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:101281400-101281800	Flanking Active TSS	Fetal Thymus	thymus
40	chr3:101281400-101282000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:101281400-101282000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr3:101281400-101282000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr3:101281400-101282000	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr3:101281400-101282200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr3:101281400-101282400	Enhancers	Spleen	Spleen
46	chr3:101281400-101282600	Enhancers	Small Intestine	intestine
47	chr3:101281400-101292600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:101281600-101281800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:101281600-101281800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:101281600-101281800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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