Variant report

Variant	rs378487
Chromosome Location	chrX:57144177-57144178
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	MAFF	chrX:57144011-57144450	K562	blood:	n/a	n/a
2	CTCF	chrX:57144088-57144197	K562	blood:	n/a	n/a
3	MAFK	chrX:57144110-57144336	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:57140393..57144317-chrX:57146299..57149635,5	MCF-7	breast:
2	chrX:57142807..57144432-chrX:57147728..57149540,2	K562	blood:

Variant related genes	Relation type
ENSG00000226310	TF binding region
ENSG00000186787	Chromatin interaction
ENSG00000226310	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10521485	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12687268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs150099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs204166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2071722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs2213510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2499551	0.86[YRI][hapmap]
rs2499555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs2516019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2516020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2516023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs2516025	0.86[YRI][hapmap]
rs4030473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4129399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4587468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs4607761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4826346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs538910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap]
rs5914036	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs5914037	0.84[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs5914052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs5914074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs5914874	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs5914897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.89[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs5914962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs5914963	0.86[YRI][hapmap]
rs5960235	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs5960951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs6611612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6612746	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs6612757	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs697664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs707346	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs912956	0.84[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap]
rs957721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs378487	SPIN-2	cis	multi-tissue	Pritchard

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57107800-57147200	Weak transcription	Right Ventricle	heart
2	chrX:57108400-57147200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chrX:57109400-57147200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chrX:57116200-57147200	Weak transcription	HSMM	muscle
5	chrX:57117000-57147800	Weak transcription	Primary B cells from cord blood	blood
6	chrX:57117600-57147200	Weak transcription	Spleen	Spleen
7	chrX:57118600-57147200	Weak transcription	Thymus	Thymus
8	chrX:57119600-57147200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chrX:57119600-57147200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:57119800-57147400	Weak transcription	Aorta	Aorta
11	chrX:57120000-57147200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chrX:57121600-57147200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chrX:57121800-57144200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chrX:57121800-57147200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chrX:57121800-57147200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chrX:57122000-57147200	Weak transcription	Fetal Intestine Small	intestine
17	chrX:57122000-57147200	Weak transcription	Left Ventricle	heart
18	chrX:57122000-57147200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chrX:57122000-57147400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chrX:57122000-57147400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chrX:57122000-57147400	Weak transcription	Small Intestine	intestine
22	chrX:57122200-57147400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chrX:57122400-57144600	Weak transcription	Fetal Intestine Large	intestine
24	chrX:57122600-57147200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chrX:57126000-57147200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chrX:57127200-57145800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chrX:57128000-57147400	Weak transcription	Primary B cells from peripheral blood	blood
28	chrX:57131000-57147200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chrX:57131600-57147200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chrX:57132800-57147200	Weak transcription	NH-A	brain
31	chrX:57133000-57144400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chrX:57133200-57147200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chrX:57133200-57147200	Weak transcription	NHLF	lung
34	chrX:57133400-57147200	Weak transcription	Fetal Thymus	thymus
35	chrX:57134000-57147200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chrX:57134000-57147200	Weak transcription	Pancreas	Pancrea
37	chrX:57134200-57145200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chrX:57134200-57147200	Weak transcription	Fetal Brain Female	brain
39	chrX:57134600-57147200	Weak transcription	Osteobl	bone
40	chrX:57135000-57147200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chrX:57135200-57147200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chrX:57135200-57147200	Weak transcription	HSMMtube	muscle
43	chrX:57135600-57147200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chrX:57135600-57147200	Weak transcription	Adipose Nuclei	Adipose
45	chrX:57135800-57144600	Weak transcription	Fetal Stomach	stomach
46	chrX:57135800-57145200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chrX:57135800-57145600	Weak transcription	Dnd41	blood
48	chrX:57135800-57147200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chrX:57135800-57147200	Weak transcription	Ovary	ovary
50	chrX:57136000-57144400	Weak transcription	A549	lung

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