Variant report

Variant	rs5988686
Chromosome Location	chrX:57937402-57937403
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chrX:57937019-57937423	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF7L2	chrX:57937076-57937424	Hela-S3	cervix:	n/a	n/a
3	FOS	chrX:57937015-57937422	MCF10A-Er-Src	breast:	n/a	n/a
4	JUND	chrX:57936978-57937442	Hela-S3	cervix:	n/a	n/a
5	TBP	chrX:57936968-57937494	Hela-S3	cervix:	n/a	n/a
6	RCOR1	chrX:57937087-57937429	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chrX:57935851-57937480	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFK	chrX:57937074-57937475	Hela-S3	cervix:	n/a	chrX:57937361-57937377 chrX:57937366-57937377 chrX:57937366-57937377 chrX:57937365-57937376
9	FOS	chrX:57937073-57937416	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chrX:57936904-57937472	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chrX:57937080-57937480	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chrX:57936920-57937490	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chrX:57936920-57937427	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chrX:57937051-57937444	IMR90	lung:	n/a	n/a
15	POLR2A	chrX:57937006-57937577	Hela-S3	cervix:	n/a	n/a
16	CHD2	chrX:57937084-57937473	Hela-S3	cervix:	n/a	n/a
17	MAZ	chrX:57937051-57937426	Hela-S3	cervix:	n/a	n/a
18	RFX5	chrX:57937049-57937456	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:57937401-57937451	T-47D	breast:	n/a
2	chrX:57937401-57937451	SK-N-SH_RA	brain:	n/a
3	chrX:57937401-57937451	Jurkat	blood:	n/a
4	chrX:57937401-57937451	HEK293	kidney:	embryo
5	chrX:57937401-57937451	BE2_C	brain:	n/a
6	chrX:57937401-57937451	NH-A	brain:	n/a
7	chrX:57937401-57937451	MCF-7	breast:	n/a
8	chrX:57937401-57937451	AG09319	gingival:	n/a
9	chrX:57937401-57937451	AG10803	skin:	n/a
10	chrX:57937401-57937451	HCT-116	colon:	n/a
11	chrX:57937401-57937451	MCF10A-Er-Src	breast:	n/a
12	chrX:57937401-57937451	H1-hESC	embryonic stem cell:	embryo
13	chrX:57937401-57937451	ECC-1	luminal epithelium:	n/a
14	chrX:57937401-57937451	LNCaP	prostate:	n/a
15	chrX:57937401-57937451	ovcar-3	ovarian:	n/a
16	chrX:57937401-57937451	Hepatocyte	liver:	n/a
17	chrX:57937401-57937451	SAEC	small airway:	n/a
18	chrX:57937401-57937451	PrEC	prostate:	n/a
19	chrX:57937401-57937451	SK-N-SH	brain:	n/a
20	chrX:57937401-57937451	NT2-D1	testis:	n/a
21	chrX:57937401-57937451	HIPEpiC	eye:	n/a
22	chrX:57937401-57937451	AG04450	lung:	fetal
23	chrX:57937401-57937451	U87	brain:	n/a
24	chrX:57937401-57937451	CMK	blood:	n/a
25	chrX:57937401-57937451	HUVEC	blood vessel:	n/a
26	chrX:57937401-57937451	GM12891	blood:	n/a
27	chrX:57937401-57937451	BJ	skin:	n/a
28	chrX:57937401-57937451	AoSMC	blood vessel:	n/a
29	chrX:57937401-57937451	RPTEC	kidney:	n/a
30	chrX:57937401-57937451	HPAEpiC	pulmonary alveolar:	n/a
31	chrX:57937401-57937451	HMEC	breast:	n/a
32	chrX:57937401-57937451	Caco-2	colon:	n/a
33	chrX:57937401-57937451	NHDF-neo	bronchial:	n/a
34	chrX:57937401-57937451	HL-60	blood:	n/a
35	chrX:57937401-57937451	HCPEpiC	choroid plexus:	n/a
36	chrX:57937401-57937451	Hela-S3	cervix:	n/a
37	chrX:57937401-57937451	HEEpiC	esophagus:	n/a
38	chrX:57937401-57937451	HRCEpiC	kidney:	n/a
39	chrX:57937401-57937451	HRPEpiC	eye:	n/a
40	chrX:57937401-57937451	NB4	blood:	n/a
41	chrX:57937401-57937451	GM19239	blood:	n/a
42	chrX:57937401-57937451	PANC-1	pancreas:	n/a
43	chrX:57937401-57937451	NHBE	bronchial:	n/a
44	chrX:57937401-57937451	AG04449	skin:	fetal
45	chrX:57937401-57937451	SKMC	muscle:	n/a
46	chrX:57937401-57937451	PFSK-1	brain:	n/a
47	chrX:57937401-57937451	A549	lung:	n/a
48	chrX:57937401-57937451	GM12878	blood:	n/a
49	chrX:57937401-57937451	HepG2	liver:	n/a
50	chrX:57937401-57937451	ProgFib	skin:	n/a

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12396496	0.91[YRI][hapmap]
rs5988955	0.95[YRI][hapmap]
rs6521662	1.00[YRI][hapmap]
rs6521664	1.00[YRI][hapmap]
rs6611648	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753356	chrX:57526389-58283218	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv930980	chrX:57672946-58544094	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv916972	chrX:57704902-58005999	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv993422	chrX:57844012-58544094	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv518933	chrX:57913685-57942553	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv915796	chrX:57926505-58544094	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57935200-57938000	Active TSS	Rectal Smooth Muscle	rectum
2	chrX:57935400-57937600	Active TSS	NHEK	skin
3	chrX:57935600-57937600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chrX:57935600-57937600	Active TSS	Brain Cingulate Gyrus	brain
5	chrX:57935600-57937600	Active TSS	Right Atrium	heart
6	chrX:57935600-57937600	Active TSS	A549	lung
7	chrX:57935600-57937800	Active TSS	Muscle Satellite Cultured Cells	--
8	chrX:57935800-57937600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chrX:57935800-57937600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chrX:57935800-57937600	Active TSS	NH-A	brain
11	chrX:57935800-57937800	Active TSS	Brain Hippocampus Middle	brain
12	chrX:57936800-57937600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chrX:57937000-57937600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chrX:57937000-57937600	Active TSS	Fetal Kidney	kidney
15	chrX:57937000-57937600	Flanking Active TSS	Dnd41	blood
16	chrX:57937000-57938000	Enhancers	Gastric	stomach
17	chrX:57937200-57937600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chrX:57937200-57937600	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chrX:57937200-57937600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chrX:57937200-57937600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chrX:57937200-57937600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chrX:57937200-57937600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chrX:57937200-57937600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chrX:57937200-57937600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chrX:57937200-57937600	Flanking Active TSS	Liver	Liver
26	chrX:57937200-57937600	Flanking Active TSS	Fetal Intestine Small	intestine
27	chrX:57937200-57937600	Flanking Active TSS	HUVEC	blood vessel
28	chrX:57937200-57937600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chrX:57937200-57937800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chrX:57937200-57937800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chrX:57937200-57937800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chrX:57937200-57937800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chrX:57937200-57937800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chrX:57937200-57937800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chrX:57937200-57937800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chrX:57937200-57937800	Enhancers	Stomach Mucosa	stomach
37	chrX:57937200-57938000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chrX:57937200-57938000	Enhancers	Fetal Heart	heart
39	chrX:57937200-57938000	Enhancers	Small Intestine	intestine
40	chrX:57937200-57938000	Flanking Active TSS	Hela-S3	cervix
41	chrX:57937400-57937600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chrX:57937400-57937600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chrX:57937400-57937600	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chrX:57937400-57937600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chrX:57937400-57937600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chrX:57937400-57937600	Flanking Active TSS	Brain Angular Gyrus	brain
47	chrX:57937400-57937600	Enhancers	Brain Germinal Matrix	brain
48	chrX:57937400-57937600	Enhancers	Duodenum Mucosa	Duodenum
49	chrX:57937400-57937600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chrX:57937400-57937600	Enhancers	Fetal Muscle Leg	muscle

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