Variant report

Variant	rs184398171
Chromosome Location	chrX:73640185-73640186
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	CTCF	chrX:73640100-73640250	HEK293	kidney:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
2	CTCF	chrX:73640100-73640250	RPTEC	kidney:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
3	MAZ	chrX:73639913-73641915	IMR90	lung:	n/a	n/a
4	CTCF	chrX:73640080-73640230	WERI-Rb-1	eye:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
5	POLR2A	chrX:73640162-73641535	U87	brain:	n/a	n/a
6	POLR2A	chrX:73640140-73640504	A549	lung:	n/a	n/a
7	CTCF	chrX:73640180-73640330	HA-sp	spinal cord:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
8	CTCF	chrX:73640060-73640210	HAc	cerebellar:	n/a	n/a
9	CTCF	chrX:73640180-73640330	Caco-2	colon:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
10	REST	chrX:73639379-73641880	H1-neurons	neurons:	n/a	chrX:73640771-73640784 chrX:73640477-73640490 chrX:73640477-73640490 chrX:73640219-73640232
11	POLR2A	chrX:73640100-73640865	A549	lung:	n/a	n/a
12	SIN3AK20	chrX:73640069-73640567	PANC-1	pancreas:	n/a	n/a
13	ZNF263	chrX:73640062-73641896	HEK293-T-REx	kidney:	n/a	chrX:73640650-73640659 chrX:73641149-73641158 chrX:73640918-73640927
14	PBX3	chrX:73640147-73640933	SK-N-SH	brain:	n/a	n/a
15	CTCF	chrX:73640120-73640270	HCPEpiC	choroid plexus:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
16	POLR2A	chrX:73640118-73641510	U87	brain:	n/a	n/a
17	POLR2A	chrX:73640121-73641651	ProgFib	skin:	n/a	n/a
18	RAD21	chrX:73640042-73640439	H1-hESC	embryonic stem cell:	n/a	chrX:73640212-73640224
19	POLR2A	chrX:73640105-73640716	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chrX:73640100-73640250	SK-N-SH_RA	brain:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
21	CTCF	chrX:73640120-73640270	HMEC	breast:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
22	CTCF	chrX:73640120-73640270	AG04450	lung:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
23	CTCF	chrX:73640094-73640339	H1-hESC	embryonic stem cell:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
24	CTCF	chrX:73640161-73640264	MCF-7	breast:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
25	SIN3A	chrX:73639599-73641513	H1-hESC	embryonic stem cell:	n/a	chrX:73640768-73640781
26	TAF1	chrX:73640171-73640572	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chrX:73639600-73641959	IMR90	lung:	n/a	n/a
28	CTCF	chrX:73640172-73640208	A549	lung:	n/a	n/a
29	CTCF	chrX:73640100-73640250	HMF	breast:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
30	CTCF	chrX:73640080-73640230	SAEC	small airway:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
31	CTCF	chrX:73640080-73640230	BJ	skin:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
32	POLR2A	chrX:73640182-73640769	SK-N-SH	brain:	n/a	n/a
33	CTCF	chrX:73640140-73640290	BJ	skin:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
34	POLR2A	chrX:73640102-73640695	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chrX:73640059-73640347	SK-N-SH_RA	brain:	n/a	chrX:73640212-73640224
36	POLR2A	chrX:73639582-73641618	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chrX:73640103-73640237	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chrX:73640136-73640225	Medullo	brain:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
39	CTCF	chrX:73640060-73640210	AG04449	skin:	n/a	n/a
40	CTCF	chrX:73640040-73640190	HRPEpiC	eye:	n/a	n/a
41	CTCF	chrX:73640080-73640230	HBMEC	blood vessel:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
42	CTCF	chrX:73640153-73640251	MCF-7	breast:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
43	POLR2A	chrX:73640184-73640900	A549	lung:	n/a	n/a
44	RAD21	chrX:73640053-73640338	H1-hESC	embryonic stem cell:	n/a	chrX:73640212-73640224
45	POLR2A	chrX:73639901-73640525	Gliobla	brain:	n/a	n/a
46	CTCF	chrX:73640100-73640250	HRPEpiC	eye:	n/a	chrX:73640206-73640224 chrX:73640209-73640222
47	POLR2A	chrX:73639985-73640929	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chrX:73639626-73641696	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:73639433..73642162-chrX:73672444..73675617,3	MCF-7	breast:
2	chrX:73639270..73641033-chrX:73663295..73665992,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RLIM-1	chrX:73640141-73640357	XLOC_008188

Variant related genes	Relation type
SLC16A2	TF binding region
ENSG00000264531	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3429687	chrX:73639127-73643875	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73638800-73643200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chrX:73639200-73643000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:73639200-73643000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chrX:73639200-73643000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chrX:73639400-73640200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chrX:73639400-73640200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
7	chrX:73639400-73640200	Enhancers	Spleen	Spleen
8	chrX:73639400-73640200	Flanking Active TSS	NH-A	brain
9	chrX:73639400-73641000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chrX:73639400-73641400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chrX:73639400-73642000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chrX:73639400-73642400	Active TSS	A549	lung
13	chrX:73639400-73642800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chrX:73639400-73642800	Active TSS	Pancreas	Pancrea
15	chrX:73639400-73643000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chrX:73639400-73643000	Active TSS	Muscle Satellite Cultured Cells	--
17	chrX:73639400-73643000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chrX:73639400-73643000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chrX:73639400-73643000	Bivalent/Poised TSS	Fetal Stomach	stomach
20	chrX:73639400-73643000	Active TSS	NHLF	lung
21	chrX:73639400-73643200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chrX:73639400-73643200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chrX:73639400-73643200	Active TSS	Brain Cingulate Gyrus	brain
24	chrX:73639400-73643200	Active TSS	Fetal Kidney	kidney
25	chrX:73639400-73643200	Active TSS	NHDF-Ad	bronchial
26	chrX:73639400-73643400	Active TSS	H1 Cell Line	embryonic stem cell
27	chrX:73639400-73643400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chrX:73639400-73643400	Active TSS	Brain Germinal Matrix	brain
29	chrX:73639400-73643400	Active TSS	HSMMtube	muscle
30	chrX:73639400-73643800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chrX:73639600-73640200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chrX:73639600-73640200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chrX:73639600-73640200	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chrX:73639600-73640200	Active TSS	Fetal Heart	heart
35	chrX:73639600-73640200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chrX:73639600-73640200	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chrX:73639600-73640200	ZNF genes & repeats	Lung	lung
38	chrX:73639600-73640200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chrX:73639600-73640400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chrX:73639600-73641200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chrX:73639600-73641600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chrX:73639600-73641800	Active TSS	Esophagus	oesophagus
43	chrX:73639600-73642200	Active TSS	Fetal Brain Female	brain
44	chrX:73639600-73642400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chrX:73639600-73642600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
46	chrX:73639600-73642600	Active TSS	Aorta	Aorta
47	chrX:73639600-73642800	Active TSS	H9 Cell Line	embryonic stem cell
48	chrX:73639600-73642800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chrX:73639600-73642800	Active TSS	Right Ventricle	heart
50	chrX:73639600-73643000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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