Variant report

Variant	rs5945116
Chromosome Location	chrX:154032733-154032734
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chrX:154032672-154034281	K562	blood:	n/a	n/a
2	POLR2A	chrX:154032652-154034628	K562	blood:	n/a	n/a
3	POLR2A	chrX:154032075-154034119	K562	blood:	n/a	n/a
4	MXI1	chrX:154032694-154034280	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chrX:154032505-154033197	K562	blood:	n/a	n/a
6	UBTF	chrX:154031543-154034188	K562	blood:	n/a	n/a
7	TBP	chrX:154032623-154033119	K562	blood:	n/a	n/a
8	POLR2A	chrX:154032556-154032930	K562	blood:	n/a	n/a
9	POLR2A	chrX:154032020-154034140	K562	blood:	n/a	n/a
10	UBTF	chrX:154032144-154034136	K562	blood:	n/a	n/a
11	MAX	chrX:154032310-154034679	NB4	blood:	n/a	chrX:154034001-154034010 chrX:154034246-154034255
12	MAX	chrX:154032591-154032931	K562	blood:	n/a	n/a
13	MYC	chrX:154032332-154033071	K562	blood:	n/a	n/a
14	POLR2A	chrX:154027279-154034457	PBDE	blood:	n/a	n/a
15	TBL1XR1	chrX:154031678-154032910	K562	blood:	n/a	n/a
16	TBL1XR1	chrX:154032368-154032779	K562	blood:	n/a	n/a
17	POLR2A	chrX:154032352-154034593	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:154019167..154022429-chrX:154030729..154034585,3	MCF-7	breast:
2	chrX:154028001..154031077-chrX:154031198..154034982,5	MCF-7	breast:
3	X:153719993-153730954..X:154027387-154034565	K562	blood:
4	chrX:153941452..153943239-chrX:154031323..154032937,2	K562	blood:
5	X:153614328-153625659..X:154027387-154034565	K562	blood:
6	chrX:154027032..154029428-chrX:154031433..154033966,4	MCF-7	breast:
7	chrX:153990073..153992547-chrX:154032098..154033920,3	MCF-7	breast:

No data

Variant related genes	Relation type
MPP1	TF binding region
ENSG00000130830	Chromatin interaction
ENSG00000130826	Chromatin interaction
ENSG00000264783	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000264631	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12398789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1467061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1509787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1800291	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1936642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5945122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5945249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5945258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7053448	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7058826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7061362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7063915	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154006200-154033200	Weak transcription	Aorta	Aorta
2	chrX:154010800-154032800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chrX:154023600-154032800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chrX:154027200-154032800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chrX:154028000-154033000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chrX:154028200-154032800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chrX:154028400-154032800	Weak transcription	Fetal Muscle Trunk	muscle
8	chrX:154028400-154033000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chrX:154028600-154032800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chrX:154028600-154032800	Weak transcription	NH-A	brain
11	chrX:154028800-154032800	Weak transcription	Psoas Muscle	Psoas
12	chrX:154028800-154032800	Weak transcription	NHDF-Ad	bronchial
13	chrX:154029000-154032800	Weak transcription	Left Ventricle	heart
14	chrX:154029000-154032800	Weak transcription	HSMM	muscle
15	chrX:154029200-154033000	Weak transcription	Spleen	Spleen
16	chrX:154029400-154032800	Weak transcription	Primary B cells from peripheral blood	blood
17	chrX:154029600-154033000	Weak transcription	Fetal Lung	lung
18	chrX:154029600-154033200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chrX:154030000-154033000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chrX:154030000-154033400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chrX:154030000-154033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chrX:154030400-154032800	Weak transcription	Brain Angular Gyrus	brain
23	chrX:154030400-154032800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chrX:154030400-154033000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chrX:154030600-154033000	Weak transcription	Lung	lung
26	chrX:154030600-154033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chrX:154030800-154032800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chrX:154031200-154032800	Enhancers	HUVEC	blood vessel
29	chrX:154031200-154033200	Transcr. at gene 5' and 3'	K562	blood
30	chrX:154031200-154034400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chrX:154031400-154034200	Active TSS	Thymus	Thymus
32	chrX:154031600-154034200	Active TSS	Fetal Intestine Large	intestine
33	chrX:154031800-154033000	Active TSS	Primary B cells from cord blood	blood
34	chrX:154032000-154032800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chrX:154032000-154033000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chrX:154032000-154033000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chrX:154032000-154033200	Enhancers	Fetal Heart	heart
38	chrX:154032000-154034400	Active TSS	Right Atrium	heart
39	chrX:154032200-154032800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chrX:154032200-154032800	Enhancers	Colon Smooth Muscle	Colon
41	chrX:154032200-154033000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chrX:154032200-154033200	Flanking Active TSS	Liver	Liver
43	chrX:154032200-154033200	Flanking Active TSS	Dnd41	blood
44	chrX:154032200-154033600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chrX:154032200-154034200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chrX:154032200-154034400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chrX:154032400-154032800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chrX:154032400-154032800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chrX:154032400-154032800	Enhancers	Muscle Satellite Cultured Cells	--
50	chrX:154032400-154032800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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