Variant report

Variant	rs369109369
Chromosome Location	chrX:55934591-55934592
allele	G/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	CTCF	chrX:55934540-55934690	HCFaa	heart:	n/a	n/a
2	CTCF	chrX:55934540-55934690	GM12867	blood:	n/a	n/a
3	EGR1	chrX:55934243-55934795	MCF-7	breast:	n/a	chrX:55934490-55934503 chrX:55934492-55934502 chrX:55934491-55934505 chrX:55934486-55934508 chrX:55934493-55934502 chrX:55934490-55934504 chrX:55934489-55934504 chrX:55934491-55934502 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934486-55934496 chrX:55934492-55934502 chrX:55934491-55934502
4	CTCF	chrX:55934540-55934690	HFF-Myc	foreskin:	n/a	n/a
5	RAD21	chrX:55934352-55934989	GM12878	blood:	n/a	n/a
6	CTCF	chrX:55934520-55934670	GM12874	blood:	n/a	n/a
7	CTCF	chrX:55934560-55934710	GM12873	blood:	n/a	n/a
8	CTCF	chrX:55934520-55934670	MCF-7	breast:	n/a	n/a
9	RAD21	chrX:55934228-55934934	HCT-116	colon:	n/a	n/a
10	CTCF	chrX:55934464-55934726	Spleen_OC	spleen:	n/a	n/a
11	RAD21	chrX:55934332-55934713	GM12878	blood:	n/a	n/a
12	CTCF	chrX:55934495-55934747	T-47D	breast:	n/a	n/a
13	RAD21	chrX:55934249-55934805	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chrX:55934500-55934650	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chrX:55934468-55934809	GM19239	blood:	n/a	n/a
16	PAX5	chrX:55934450-55934701	GM12878	blood:	n/a	n/a
17	GABPA	chrX:55934329-55934829	MCF-7	breast:	n/a	n/a
18	ZNF143	chrX:55934382-55935704	GM12878	blood:	n/a	n/a
19	CTCF	chrX:55934580-55934730	GM12875	blood:	n/a	n/a
20	POLR2A	chrX:55934220-55936344	GM12891	blood:	n/a	n/a
21	MAX	chrX:55934335-55934984	GM12878	blood:	n/a	chrX:55934492-55934501
22	CTCF	chrX:55934560-55934710	AG10803	skin:	n/a	n/a
23	EGR1	chrX:55934211-55934879	HCT-116	colon:	n/a	chrX:55934490-55934503 chrX:55934492-55934502 chrX:55934491-55934505 chrX:55934486-55934508 chrX:55934493-55934502 chrX:55934490-55934504 chrX:55934489-55934504 chrX:55934491-55934502 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934486-55934496 chrX:55934492-55934502 chrX:55934491-55934502
24	ELF1	chrX:55934386-55934876	MCF-7	breast:	n/a	n/a
25	EGR1	chrX:55934406-55934608	GM12878	blood:	n/a	chrX:55934490-55934503 chrX:55934492-55934502 chrX:55934491-55934505 chrX:55934486-55934508 chrX:55934493-55934502 chrX:55934490-55934504 chrX:55934489-55934504 chrX:55934491-55934502 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934486-55934496 chrX:55934492-55934502 chrX:55934491-55934502
26	CTCF	chrX:55934530-55934696	GM20000	blood:	n/a	n/a
27	EGR1	chrX:55934337-55934714	ECC-1	luminal epithelium:	n/a	chrX:55934490-55934503 chrX:55934492-55934502 chrX:55934491-55934505 chrX:55934486-55934508 chrX:55934493-55934502 chrX:55934490-55934504 chrX:55934489-55934504 chrX:55934491-55934502 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934486-55934496 chrX:55934492-55934502 chrX:55934491-55934502
28	YY1	chrX:55934407-55934813	GM12892	blood:	n/a	chrX:55934492-55934506
29	CTCF	chrX:55934540-55934690	HMF	breast:	n/a	n/a
30	GATA1	chrX:55934485-55935564	PBDE	blood:	n/a	chrX:55935534-55935543
31	CTCF	chrX:55934500-55934650	HUVEC	blood vessel:	n/a	n/a
32	ZNF217	chrX:55934507-55934824	MCF-7	breast:	n/a	n/a
33	CTCF	chrX:55934520-55934670	GM12878	blood:	n/a	n/a
34	POLR2A	chrX:55934323-55935696	GM15510	blood:	n/a	n/a
35	CTCF	chrX:55934560-55934710	AG09319	gingival:	n/a	n/a
36	CTCF	chrX:55934520-55934662	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chrX:55934346-55934883	MCF-7	breast:	n/a	n/a
38	POLR2A	chrX:55934127-55936922	GM12878	blood:	n/a	n/a
39	NFIC	chrX:55934346-55935025	GM12878	blood:	n/a	n/a
40	WRNIP1	chrX:55934349-55934911	GM12878	blood:	n/a	n/a
41	RCOR1	chrX:55934362-55935665	GM12878	blood:	n/a	n/a
42	CTCF	chrX:55934447-55934761	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chrX:55934500-55934650	BJ	skin:	n/a	n/a
44	EGR1	chrX:55934268-55934781	ECC-1	luminal epithelium:	n/a	chrX:55934490-55934503 chrX:55934492-55934502 chrX:55934491-55934505 chrX:55934486-55934508 chrX:55934493-55934502 chrX:55934490-55934504 chrX:55934489-55934504 chrX:55934491-55934502 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934486-55934496 chrX:55934492-55934502 chrX:55934491-55934502
45	EGR1	chrX:55934395-55934618	GM12878	blood:	n/a	chrX:55934490-55934503 chrX:55934492-55934502 chrX:55934491-55934505 chrX:55934486-55934508 chrX:55934493-55934502 chrX:55934490-55934504 chrX:55934489-55934504 chrX:55934491-55934502 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934490-55934503 chrX:55934486-55934496 chrX:55934492-55934502 chrX:55934491-55934502
46	CTCF	chrX:55934580-55934730	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chrX:55934540-55934690	RPTEC	kidney:	n/a	n/a
48	ELF1	chrX:55934343-55934748	GM12878	blood:	n/a	n/a
49	RCOR1	chrX:55934568-55934784	K562	blood:	n/a	n/a
50	CTCF	chrX:55934560-55934710	GM12869	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353698.1-2	chrX:55934556-55935233	ENSG00000227486.1

Variant related genes	Relation type
ENSG00000252961	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	esv3384643	chrX:55919980-55939813	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
2	esv2752678	chrX:55930768-56851953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2753382	chrX:55930768-56851953	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2754448	chrX:55930768-56851953	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755974	chrX:55930768-56851953	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv432333	chrX:55930768-56851953	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:55933600-55936400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chrX:55933600-55939000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:55933800-55936200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chrX:55934000-55936000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chrX:55934000-55936000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chrX:55934000-55936000	Active TSS	Rectal Smooth Muscle	rectum
7	chrX:55934000-55938800	Active TSS	GM12878-XiMat	blood
8	chrX:55934200-55934600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chrX:55934200-55934600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chrX:55934200-55934600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chrX:55934200-55934600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chrX:55934200-55934600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chrX:55934200-55934600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chrX:55934200-55934600	Flanking Active TSS	Brain Germinal Matrix	brain
15	chrX:55934200-55934600	Enhancers	Esophagus	oesophagus
16	chrX:55934200-55934600	Enhancers	Fetal Lung	lung
17	chrX:55934200-55934600	Enhancers	Stomach Mucosa	stomach
18	chrX:55934200-55934600	Enhancers	NHEK	skin
19	chrX:55934200-55934800	Active TSS	Primary hematopoietic stem cells	blood
20	chrX:55934200-55935600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chrX:55934200-55935600	Active TSS	Colon Smooth Muscle	Colon
22	chrX:55934200-55935600	Active TSS	Fetal Brain Male	brain
23	chrX:55934200-55935800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chrX:55934200-55935800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chrX:55934200-55935800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
26	chrX:55934200-55935800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chrX:55934200-55935800	Active TSS	Brain Angular Gyrus	brain
28	chrX:55934200-55935800	Active TSS	Brain Hippocampus Middle	brain
29	chrX:55934200-55935800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
30	chrX:55934200-55935800	Active TSS	HSMM	muscle
31	chrX:55934200-55935800	Active TSS	Monocytes-CD14+_RO01746	blood
32	chrX:55934200-55936000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chrX:55934200-55936000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chrX:55934200-55936000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chrX:55934200-55936000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chrX:55934200-55936000	Active TSS	Brain Anterior Caudate	brain
37	chrX:55934200-55936000	Active TSS	Colonic Mucosa	Colon
38	chrX:55934200-55936200	Active TSS	Duodenum Mucosa	Duodenum
39	chrX:55934200-55936200	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chrX:55934200-55936200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chrX:55934200-55936400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chrX:55934200-55936400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chrX:55934200-55936400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chrX:55934400-55934600	Enhancers	Primary B cells from cord blood	blood
45	chrX:55934400-55934600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chrX:55934400-55934600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chrX:55934400-55934600	Enhancers	Fetal Thymus	thymus
48	chrX:55934400-55934600	Enhancers	Lung	lung
49	chrX:55934400-55934600	Enhancers	Pancreas	Pancrea
50	chrX:55934400-55934600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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