Variant report

Variant	rs868866
Chromosome Location	chr1:151761804-151761805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:151760827-151765002	SK-N-SH	brain:	n/a	chr1:151761465-151761474
2	MXI1	chr1:151761776-151764760	SK-N-SH	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151735509..151737891-chr1:151761737..151764631,3	K562	blood:
2	chr1:151760700..151764856-chr1:151797170..151799946,4	MCF-7	breast:
3	chr1:151736194..151739106-chr1:151761711..151764631,3	K562	blood:
4	chr1:151371873..151373520-chr1:151760428..151762155,2	K562	blood:
5	chr1:151042193..151044467-chr1:151761804..151763901,2	MCF-7	breast:
6	chr1:151761172..151762786-chr1:151788164..151789988,2	MCF-7	breast:
7	chr1:151733895..151739384-chr1:151759968..151766425,14	MCF-7	breast:
8	chr1:151739515..151742335-chr1:151761325..151763693,2	MCF-7	breast:
9	chr1:151583249..151586152-chr1:151761338..151763937,3	K562	blood:
10	chr1:151734278..151737585-chr1:151760529..151764689,8	MCF-7	breast:
11	chr1:151759662..151762835-chr1:151769243..151771568,4	K562	blood:
12	chr1:151760926..151765128-chr1:151802888..151806720,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203288	TF binding region
ENSG00000232937	Chromatin interaction
ENSG00000269489	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000249602	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000143376	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1054475	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1123855	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11586691	0.96[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11806815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143606	0.83[CHB][hapmap]
rs12748967	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758387	0.85[CHB][hapmap]
rs1623480	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1781420	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1781421	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1781423	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1781424	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1915544	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1996729	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1996731	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1996732	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2460997	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2495396	0.89[CEU][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35077383	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35834074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828057	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[ASN][1000 genomes]
rs4240870	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4484926	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4634911	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845339	0.88[CHB][hapmap]
rs4845355	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845556	0.91[EUR][1000 genomes]
rs4995159	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55982513	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60136317	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61815091	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61815098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61815099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587619	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6672920	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6680404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684101	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7521817	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7523001	0.90[EUR][1000 genomes]
rs7529549	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs868867	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010398	chr1:151761649-151790940	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs868866	CTSK	cis	cerebellum	SCAN
rs868866	LYSMD1	cis	parietal	SCAN
rs868866	TDRKH	cis	cerebellum	SCAN
rs868866	TDRKH	cis	parietal	SCAN
rs868866	BCL9	cis	cerebellum	SCAN
rs868866	PLEKHO1	cis	cerebellum	SCAN
rs868866	TDRKH	cis	multi-tissue	Pritchard

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151736800-151762600	Weak transcription	Gastric	stomach
2	chr1:151737000-151762400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:151737000-151762400	Weak transcription	HSMMtube	muscle
4	chr1:151737000-151762600	Weak transcription	Small Intestine	intestine
5	chr1:151741000-151762600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:151742800-151762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:151744000-151762200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:151744600-151762200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:151746000-151762400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:151746800-151762000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:151747000-151762400	Weak transcription	Psoas Muscle	Psoas
12	chr1:151747000-151762400	Weak transcription	Right Ventricle	heart
13	chr1:151747200-151762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:151747600-151762400	Weak transcription	Pancreas	Pancrea
15	chr1:151748400-151762200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:151748600-151762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:151748800-151762400	Weak transcription	Colonic Mucosa	Colon
18	chr1:151749200-151762600	Weak transcription	Spleen	Spleen
19	chr1:151749400-151762400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:151749600-151762000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:151749600-151762200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:151749600-151762600	Weak transcription	Lung	lung
23	chr1:151751200-151762000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:151751200-151762400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:151751400-151762000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:151751400-151762200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:151751400-151762400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:151751600-151762200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:151751600-151762400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:151752400-151762000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:151752400-151762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:151752400-151762400	Weak transcription	Ovary	ovary
33	chr1:151752600-151762000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:151752600-151762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:151752600-151762000	Weak transcription	Adipose Nuclei	Adipose
36	chr1:151752600-151762000	Weak transcription	Liver	Liver
37	chr1:151752600-151762000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:151752600-151762200	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:151752600-151762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:151752800-151762000	Weak transcription	Brain Substantia Nigra	brain
41	chr1:151752800-151762000	Weak transcription	Fetal Brain Male	brain
42	chr1:151753000-151762000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:151753000-151762000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:151753000-151762000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:151754200-151762200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:151754400-151762000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:151754400-151762000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:151754400-151762000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:151754400-151762200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:151754400-151762400	Weak transcription	Placenta	Placenta

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