Variant report

Variant	rs1884555
Chromosome Location	chrX:110408251-110408252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrX:110408062-110408279	K562	blood:	n/a	n/a
2	CTCF	chrX:110408120-110408270	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chrX:110407990-110408343	IMR90	lung:	n/a	n/a
4	CTCF	chrX:110408084-110408266	LNCaP	prostate:	n/a	n/a
5	CTCF	chrX:110408077-110408253	MCF-7	breast:	n/a	n/a
6	CTCF	chrX:110408140-110408290	AG04450	lung:	n/a	n/a
7	ZNF143	chrX:110408039-110408297	GM12878	blood:	n/a	n/a
8	RAD21	chrX:110408044-110408304	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chrX:110408003-110408349	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chrX:110408120-110408270	HPAF	blood vessel:	n/a	n/a
11	CTCF	chrX:110408086-110408313	ProgFib	skin:	n/a	n/a
12	CTCF	chrX:110408060-110408330	A549	lung:	n/a	n/a
13	CTCF	chrX:110408120-110408270	SAEC	small airway:	n/a	n/a
14	RAD21	chrX:110407796-110408850	SK-N-SH	brain:	n/a	n/a
15	CTCF	chrX:110408160-110408310	HRE	kidney:	n/a	n/a
16	CTCF	chrX:110408160-110408310	RPTEC	kidney:	n/a	n/a
17	CTCF	chrX:110407995-110408328	K562	blood:	n/a	n/a
18	CTCF	chrX:110407895-110408378	MCF-7	breast:	n/a	n/a
19	SMC3	chrX:110408007-110408294	Hela-S3	cervix:	n/a	n/a
20	CTCF	chrX:110408140-110408290	GM12864	blood:	n/a	n/a
21	CTCF	chrX:110408062-110408279	MCF-7	breast:	n/a	n/a
22	CTCF	chrX:110408120-110408270	GM12872	blood:	n/a	n/a
23	CTCF	chrX:110408120-110408270	RPTEC	kidney:	n/a	n/a
24	RAD21	chrX:110407931-110408417	MCF-7	breast:	n/a	n/a
25	CTCF	chrX:110408120-110408270	HA-sp	spinal cord:	n/a	n/a
26	RAD21	chrX:110408010-110408399	MCF-7	breast:	n/a	n/a
27	RAD21	chrX:110408088-110408261	HepG2	liver:	n/a	n/a
28	CTCF	chrX:110408160-110408310	HCM	heart:	n/a	n/a
29	CTCF	chrX:110407838-110408461	A549	lung:	n/a	n/a
30	CTCF	chrX:110407968-110408331	GM12878	blood:	n/a	n/a
31	CTCF	chrX:110407787-110408463	SK-N-SH	brain:	n/a	n/a
32	CTCF	chrX:110408180-110408330	WI-38	lung:	n/a	n/a
33	SMC3	chrX:110407924-110408388	SK-N-SH	brain:	n/a	n/a
34	CTCF	chrX:110408120-110408270	HVMF	connective:	n/a	n/a
35	SMC3	chrX:110408070-110408347	HepG2	liver:	n/a	n/a
36	CTCF	chrX:110408120-110408270	GM12878	blood:	n/a	n/a
37	CTCF	chrX:110408120-110408270	GM12874	blood:	n/a	n/a
38	CTCF	chrX:110408087-110408251	SK-N-SH_RA	brain:	n/a	n/a
39	RAD21	chrX:110407992-110408331	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chrX:110408064-110408383	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chrX:110407955-110408371	MCF-7	breast:	n/a	n/a
42	CTCF	chrX:110408096-110408252	A549	lung:	n/a	n/a
43	CTCF	chrX:110408028-110408278	Medullo	brain:	n/a	n/a
44	CTCF	chrX:110407942-110408262	HCT-116	colon:	n/a	n/a
45	RAD21	chrX:110407990-110408303	GM12878	blood:	n/a	n/a
46	SMC3	chrX:110408037-110408279	GM12878	blood:	n/a	n/a
47	CTCF	chrX:110408120-110408270	HBMEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:110407993..110408709-chrX:110487120..110487699,2	MCF-7	breast:
2	chrX:110407872..110408407-chrX:110687695..110688340,2	MCF-7	breast:

No data

Variant related genes	Relation type
FCF1P4	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10521531	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1159650	1.00[CEU][hapmap]
rs12116264	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1339302	1.00[CEU][hapmap]
rs1339303	1.00[CEU][hapmap]
rs1339304	1.00[CEU][hapmap]
rs1361320	1.00[CEU][hapmap]
rs16986368	1.00[CEU][hapmap]
rs16986378	1.00[CEU][hapmap]
rs16986384	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs16986385	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs1884552	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs1884554	1.00[CEU][hapmap]
rs2050750	1.00[CEU][hapmap]
rs2050751	1.00[CEU][hapmap]
rs2066102	1.00[CEU][hapmap]
rs2208017	1.00[CEU][hapmap]
rs2208018	1.00[CEU][hapmap]
rs2208020	1.00[CEU][hapmap]
rs4341302	1.00[CEU][hapmap]
rs4384152	1.00[CEU][hapmap]
rs4514174	1.00[CEU][hapmap]
rs5942719	1.00[CEU][hapmap]
rs5942720	1.00[CEU][hapmap]
rs5942721	1.00[CEU][hapmap]
rs5943130	1.00[CEU][hapmap]
rs5943132	1.00[CEU][hapmap]
rs5943137	1.00[CEU][hapmap]
rs5985318	1.00[CEU][hapmap]
rs5985586	1.00[CEU][hapmap]
rs5985587	1.00[CEU][hapmap]
rs5985588	1.00[CEU][hapmap]
rs5985590	1.00[CEU][hapmap]
rs6642857	1.00[CEU][hapmap]
rs6642860	1.00[CEU][hapmap]
rs6642862	1.00[CEU][hapmap]
rs6642870	1.00[CEU][hapmap]
rs7879757	1.00[CEU][hapmap]
rs7881798	1.00[CEU][hapmap]
rs994591	1.00[CEU][hapmap];0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532899	chrX:110117241-110419226	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337751	chrX:110217889-110429181	Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869661	chrX:110337762-111084262	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:110351800-110419400	Weak transcription	Pancreas	Pancrea
2	chrX:110385200-110424200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chrX:110406600-110424800	Weak transcription	Brain Germinal Matrix	brain
4	chrX:110407200-110412600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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