Variant report

Variant	rs11091631
Chromosome Location	chrX:57163925-57163926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chrX:57163485-57163937	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chrX:57163508-57164210	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chrX:57163506-57164127	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chrX:57163451-57164347	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chrX:57163521-57164060	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chrX:57162909-57164127	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF2	chrX:57163547-57163939	H1-hESC	embryonic stem cell:	n/a	chrX:57163672-57163681 chrX:57163669-57163682 chrX:57163671-57163680 chrX:57163671-57163680 chrX:57163665-57163686
8	POLR2A	chrX:57163297-57163964	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:57163888-57163938	ECC-1	luminal epithelium:	n/a
2	chrX:57163888-57163938	K562	blood:	n/a
3	chrX:57163888-57163938	T-47D	breast:	n/a
4	chrX:57163888-57163938	ProgFib	skin:	n/a
5	chrX:57163888-57163938	SK-N-SH_RA	brain:	n/a
6	chrX:57163888-57163938	SAEC	small airway:	n/a
7	chrX:57163888-57163938	NT2-D1	testis:	n/a
8	chrX:57163888-57163938	PANC-1	pancreas:	n/a
9	chrX:57163888-57163938	HAEpiC	amniotic membrane:	n/a
10	chrX:57163888-57163938	BJ	skin:	n/a
11	chrX:57163888-57163938	HCM	heart:	n/a
12	chrX:57163888-57163938	AG04449	skin:	fetal
13	chrX:57163888-57163938	MCF10A-Er-Src	breast:	n/a
14	chrX:57163888-57163938	HRPEpiC	eye:	n/a
15	chrX:57163888-57163938	U87	brain:	n/a
16	chrX:57163888-57163938	Jurkat	blood:	n/a
17	chrX:57163888-57163938	HUVEC	blood vessel:	n/a
18	chrX:57163888-57163938	SK-N-MC	brain:	n/a
19	chrX:57163888-57163938	AG04450	lung:	fetal
20	chrX:57163888-57163938	NHBE	bronchial:	n/a
21	chrX:57163888-57163938	HNPCEpiC	eye:	n/a
22	chrX:57163888-57163938	HCPEpiC	choroid plexus:	n/a
23	chrX:57163888-57163938	NH-A	brain:	n/a
24	chrX:57163888-57163938	NHDF-neo	bronchial:	n/a
25	chrX:57163888-57163938	PFSK-1	brain:	n/a
26	chrX:57163888-57163938	RPTEC	kidney:	n/a
27	chrX:57163888-57163938	HepG2	liver:	n/a
28	chrX:57163888-57163938	HL-60	blood:	n/a
29	chrX:57163888-57163938	GM06990	blood:	n/a
30	chrX:57163888-57163938	CMK	blood:	n/a
31	chrX:57163888-57163938	GM12878	blood:	n/a
32	chrX:57163888-57163938	Hela-S3	cervix:	n/a
33	chrX:57163888-57163938	GM19239	blood:	n/a
34	chrX:57163888-57163938	GM12891	blood:	n/a
35	chrX:57163888-57163938	HMEC	breast:	n/a
36	chrX:57163888-57163938	H1-hESC	embryonic stem cell:	embryo
37	chrX:57163888-57163938	NB4	blood:	n/a
38	chrX:57163888-57163938	MCF-7	breast:	n/a
39	chrX:57163888-57163938	HEK293	kidney:	embryo
40	chrX:57163888-57163938	HEEpiC	esophagus:	n/a
41	chrX:57163888-57163938	AG10803	skin:	n/a
42	chrX:57163888-57163938	GM12892	blood:	n/a
43	chrX:57163888-57163938	HCT-116	colon:	n/a
44	chrX:57163888-57163938	BE2_C	brain:	n/a
45	chrX:57163888-57163938	A549	lung:	n/a
46	chrX:57163888-57163938	HRCEpiC	kidney:	n/a
47	chrX:57163888-57163938	SKMC	muscle:	n/a
48	chrX:57163888-57163938	Caco-2	colon:	n/a
49	chrX:57163888-57163938	ovcar-3	ovarian:	n/a
50	chrX:57163888-57163938	HRE	kidney:	n/a

No data

Variant related genes	Relation type
SPIN2A	TF binding region
SPIN2A	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10126276	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12394031	0.92[ASW][hapmap];0.92[LWK][hapmap];0.84[MKK][hapmap];0.95[YRI][hapmap]
rs2142768	0.95[YRI][hapmap]
rs2317097	0.92[ASW][hapmap];0.92[LWK][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap]
rs5960893	0.92[ASW][hapmap];0.91[LWK][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap]
rs5960904	0.90[YRI][hapmap]
rs5960905	1.00[ASW][hapmap];0.91[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57159000-57173400	Weak transcription	Dnd41	blood
2	chrX:57162000-57171000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:57163200-57164000	Active TSS	Colonic Mucosa	Colon
4	chrX:57163200-57164000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
5	chrX:57163200-57164200	Active TSS	H1 Cell Line	embryonic stem cell
6	chrX:57163200-57164200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chrX:57163200-57164200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chrX:57163200-57164200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chrX:57163200-57164200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chrX:57163200-57164200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chrX:57163200-57164200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chrX:57163200-57164200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chrX:57163200-57164200	Active TSS	Fetal Kidney	kidney
14	chrX:57163200-57164200	Active TSS	Stomach Smooth Muscle	stomach
15	chrX:57163200-57164400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chrX:57163200-57164400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chrX:57163200-57164400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chrX:57163400-57164000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chrX:57163400-57164000	Active TSS	Brain Angular Gyrus	brain
20	chrX:57163400-57164000	Active TSS	Brain Hippocampus Middle	brain
21	chrX:57163400-57164200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chrX:57163400-57164200	Active TSS	Adipose Nuclei	Adipose
23	chrX:57163400-57164200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chrX:57163400-57164200	Active TSS	Fetal Brain Female	brain
25	chrX:57163400-57164200	Active TSS	Fetal Intestine Small	intestine
26	chrX:57163400-57164200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
27	chrX:57163400-57164200	Active TSS	Fetal Stomach	stomach
28	chrX:57163400-57164400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chrX:57163600-57164000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chrX:57163600-57164000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chrX:57163600-57164000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chrX:57163600-57164000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
33	chrX:57163600-57164000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chrX:57163600-57164000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chrX:57163600-57164000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chrX:57163600-57164000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chrX:57163600-57164000	Active TSS	Brain Anterior Caudate	brain
38	chrX:57163600-57164000	Active TSS	Brain Germinal Matrix	brain
39	chrX:57163600-57164000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chrX:57163600-57164000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chrX:57163600-57164000	Flanking Active TSS	Esophagus	oesophagus
42	chrX:57163600-57164000	Active TSS	Ovary	ovary
43	chrX:57163600-57164000	Flanking Active TSS	Pancreas	Pancrea
44	chrX:57163600-57164000	Active TSS	Placenta Amnion	Placenta Amnion
45	chrX:57163600-57164000	Enhancers	Psoas Muscle	Psoas
46	chrX:57163600-57164000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chrX:57163600-57164000	Active TSS	Rectal Smooth Muscle	rectum
48	chrX:57163600-57164000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chrX:57163600-57164000	Active TSS	NH-A	brain
50	chrX:57163600-57164200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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