Variant report

Variant	rs1028348
Chromosome Location	chrX:65384163-65384164
allele	A/G
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	UBTF	chrX:65383733-65384169	K562	blood:	n/a	n/a
2	HCFC1	chrX:65383836-65384258	K562	blood:	n/a	n/a
3	YY1	chrX:65383786-65384226	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chrX:65383697-65384269	K562	blood:	n/a	chrX:65384044-65384058
5	EP300	chrX:65383728-65384217	K562	blood:	n/a	chrX:65383877-65383891
6	CCNT2	chrX:65383776-65384391	K562	blood:	n/a	n/a
7	RCOR1	chrX:65383722-65384263	K562	blood:	n/a	n/a
8	ELK1	chrX:65383852-65384177	K562	blood:	n/a	n/a
9	MAZ	chrX:65383758-65384341	K562	blood:	n/a	chrX:65384132-65384142
10	PML	chrX:65383657-65384192	K562	blood:	n/a	n/a
11	TBP	chrX:65383702-65384243	K562	blood:	n/a	n/a
12	ZMIZ1	chrX:65383716-65384163	K562	blood:	n/a	n/a
13	TEAD4	chrX:65383857-65384170	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAL1	chrX:65383413-65384189	K562	blood:	n/a	n/a
15	POLR2A	chrX:65383581-65384166	K562	blood:	n/a	n/a
16	ARID3A	chrX:65383678-65384183	K562	blood:	n/a	n/a
17	IRF1	chrX:65383529-65384319	K562	blood:	n/a	chrX:65383849-65383859 chrX:65383849-65383863 chrX:65383845-65383859
18	TEAD4	chrX:65383598-65384290	K562	blood:	n/a	n/a
19	TBL1XR1	chrX:65383551-65384187	K562	blood:	n/a	n/a
20	POLR2A	chrX:65383657-65384186	K562	blood:	n/a	n/a
21	TRIM28	chrX:65383741-65384234	K562	blood:	n/a	n/a
22	ATF2	chrX:65383853-65384184	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chrX:65383891-65384216	K562	blood:	n/a	n/a
24	ATF3	chrX:65383806-65384172	K562	blood:	n/a	n/a
25	POLR2A	chrX:65383966-65384231	H1-hESC	embryonic stem cell:	n/a	n/a
26	IRF1	chrX:65383648-65384190	K562	blood:	n/a	chrX:65383849-65383859 chrX:65383849-65383863 chrX:65383845-65383859
27	POLR2A	chrX:65383630-65384233	K562	blood:	n/a	n/a
28	TBP	chrX:65383886-65384271	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chrX:65383956-65384258	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chrX:65383867-65384208	H1-hESC	embryonic stem cell:	n/a	n/a
31	SP1	chrX:65383726-65384202	H1-hESC	embryonic stem cell:	n/a	chrX:65384126-65384140 chrX:65384132-65384146
32	POLR2A	chrX:65383366-65384305	K562	blood:	n/a	n/a
33	JUN	chrX:65383796-65384178	K562	blood:	n/a	chrX:65384044-65384058
34	CUX1	chrX:65383699-65384171	K562	blood:	n/a	n/a
35	POLR2A	chrX:65383658-65384246	K562	blood:	n/a	n/a
36	RFX5	chrX:65383852-65384218	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF384	chrX:65383826-65384194	K562	blood:	n/a	n/a
38	POLR2A	chrX:65383652-65384257	K562	blood:	n/a	n/a
39	ZC3H11A	chrX:65383659-65384485	K562	blood:	n/a	n/a
40	SP1	chrX:65383723-65384303	K562	blood:	n/a	chrX:65384126-65384140 chrX:65384132-65384146
41	TAF1	chrX:65383870-65384273	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUN	chrX:65383832-65384299	K562	blood:	n/a	chrX:65384044-65384058
43	ELF1	chrX:65383771-65384221	K562	blood:	n/a	n/a
44	JUN	chrX:65383830-65384197	K562	blood:	n/a	chrX:65384044-65384058
45	CHD2	chrX:65383878-65384517	H1-hESC	embryonic stem cell:	n/a	n/a
46	SMC3	chrX:65383854-65384181	K562	blood:	n/a	n/a
47	GTF2F1	chrX:65383829-65384201	K562	blood:	n/a	n/a
48	SIN3A	chrX:65383888-65384272	H1-hESC	embryonic stem cell:	n/a	n/a
49	RFX5	chrX:65383851-65384177	K562	blood:	n/a	n/a
50	SP1	chrX:65383795-65384188	GM12878	blood:	n/a	chrX:65384126-65384140 chrX:65384132-65384146

Variant related genes	Relation type
HEPH	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1011526	0.93[MEX][hapmap]
rs1068537	0.93[MEX][hapmap]
rs1068538	0.92[MEX][hapmap]
rs1091486	0.93[MEX][hapmap]
rs1264212	0.93[MEX][hapmap]
rs1264216	0.93[MEX][hapmap]
rs1325561	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs1456804	0.93[MEX][hapmap]
rs1456806	0.85[MEX][hapmap]
rs2206203	0.93[MEX][hapmap]
rs3848900	0.86[MEX][hapmap]
rs3848901	0.86[MEX][hapmap]
rs3903921	0.86[MEX][hapmap]
rs4145625	0.89[CEU][hapmap]
rs4827449	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs582787	0.85[MEX][hapmap]
rs585069	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs586789	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs587657	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs5918579	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs5918587	0.92[ASW][hapmap];0.89[CEU][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs5918594	0.93[MEX][hapmap]
rs5918974	0.89[CEU][hapmap];0.81[LWK][hapmap];0.93[MEX][hapmap];0.89[YRI][hapmap]
rs5918975	0.89[CEU][hapmap]
rs5918977	0.89[CEU][hapmap]
rs5964486	0.86[MEX][hapmap]
rs5964487	0.86[MEX][hapmap]
rs5964488	0.86[MEX][hapmap]
rs5964500	0.93[MEX][hapmap]
rs5965083	0.89[CEU][hapmap];0.86[MEX][hapmap]
rs5965105	0.93[MEX][hapmap]
rs5965106	0.93[MEX][hapmap]
rs606886	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs614506	0.89[CEU][hapmap]
rs6624844	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs6624875	0.93[MEX][hapmap]
rs670546	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs699863	0.93[MEX][hapmap]
rs7054364	0.93[MEX][hapmap]
rs7062799	0.93[MEX][hapmap]
rs707302	0.93[MEX][hapmap]
rs708966	0.93[MEX][hapmap]
rs708968	0.93[MEX][hapmap]
rs708969	0.92[MEX][hapmap]
rs760867	0.89[CEU][hapmap];0.93[MEX][hapmap]
rs7891437	0.93[MEX][hapmap]
rs806607	0.93[MEX][hapmap]
rs806608	0.93[MEX][hapmap]
rs809363	0.93[MEX][hapmap]
rs942844	0.89[CEU][hapmap]
rs9633155	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429625	chrX:64787230-65458721	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv995042	chrX:65121634-65953299	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv916393	chrX:65269672-65521616	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3350331	chrX:65287003-65495627	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65381800-65384400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chrX:65382000-65385400	Active TSS	Rectal Mucosa Donor 31	rectum
3	chrX:65382200-65387000	Active TSS	K562	blood
4	chrX:65382400-65385400	Active TSS	Colonic Mucosa	Colon
5	chrX:65382400-65385600	Active TSS	Rectal Smooth Muscle	rectum
6	chrX:65382400-65386000	Active TSS	Duodenum Mucosa	Duodenum
7	chrX:65382400-65387200	Active TSS	Fetal Intestine Large	intestine
8	chrX:65382400-65387200	Active TSS	Fetal Intestine Small	intestine
9	chrX:65382800-65385400	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chrX:65383000-65386600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chrX:65383600-65442200	Weak transcription	Small Intestine	intestine
12	chrX:65383800-65384200	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chrX:65383800-65384600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chrX:65383800-65384800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
15	chrX:65383800-65385000	Active TSS	NHDF-Ad	bronchial
16	chrX:65383800-65385400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chrX:65383800-65385600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chrX:65383800-65385600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chrX:65383800-65385600	Active TSS	Fetal Kidney	kidney
20	chrX:65383800-65385600	Active TSS	Ovary	ovary
21	chrX:65383800-65385800	Active TSS	H1 Cell Line	embryonic stem cell
22	chrX:65383800-65386000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chrX:65383800-65386000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chrX:65383800-65386000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chrX:65383800-65386000	Active TSS	Fetal Stomach	stomach
26	chrX:65384000-65384200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chrX:65384000-65384400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chrX:65384000-65384400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chrX:65384000-65384400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
30	chrX:65384000-65384600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chrX:65384000-65384600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chrX:65384000-65384600	Active TSS	Fetal Muscle Trunk	muscle
33	chrX:65384000-65384600	Active TSS	Fetal Thymus	thymus
34	chrX:65384000-65384600	Active TSS	Left Ventricle	heart
35	chrX:65384000-65384600	Active TSS	HSMM	muscle
36	chrX:65384000-65384800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chrX:65384000-65384800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chrX:65384000-65384800	Active TSS	Brain Angular Gyrus	brain
39	chrX:65384000-65384800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chrX:65384000-65385000	Active TSS	Right Ventricle	heart
41	chrX:65384000-65385000	Active TSS	HSMMtube	muscle
42	chrX:65384000-65385200	Active TSS	Aorta	Aorta
43	chrX:65384000-65385200	Active TSS	Osteobl	bone
44	chrX:65384000-65385400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chrX:65384000-65385400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chrX:65384000-65385400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chrX:65384000-65385400	Active TSS	Colon Smooth Muscle	Colon
48	chrX:65384000-65385400	Active TSS	Fetal Heart	heart
49	chrX:65384000-65385400	Active TSS	NH-A	brain
50	chrX:65384000-65385600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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