Variant report

Variant	rs5940367
Chromosome Location	chrX:154465842-154465843
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:154465518..154467045-chrX:154480264..154482064,2	MCF-7	breast:
2	chrX:154441446..154445245-chrX:154462967..154466501,5	MCF-7	breast:
3	chrX:154465478..154467613-chrX:154473128..154477235,3	K562	blood:
4	chrX:154296164..154298364-chrX:154464411..154467266,2	K562	blood:

Variant related genes	Relation type
ENSG00000224978	Chromatin interaction
ENSG00000155959	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1128863	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs12387365	1.00[CEU][hapmap]
rs17052027	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3599	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5940453	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5987093	1.00[CEU][hapmap];0.87[TSI][hapmap]

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	nsv916671	chrX:154418093-154560374	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv532966	chrX:154418093-154721378	Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv29972	chrX:154418093-154929412	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv532965	chrX:154418093-155226096	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv532967	chrX:154418093-155252027	Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv534387	chrX:154455491-154560375	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154445600-154467800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chrX:154445600-154471800	Weak transcription	Aorta	Aorta
3	chrX:154446200-154468000	Weak transcription	Brain Substantia Nigra	brain
4	chrX:154446200-154469800	Weak transcription	Right Ventricle	heart
5	chrX:154446400-154467800	Weak transcription	Pancreas	Pancrea
6	chrX:154446400-154471400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chrX:154446400-154472000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chrX:154447200-154467600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chrX:154447200-154471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chrX:154447400-154467200	Weak transcription	Small Intestine	intestine
11	chrX:154448400-154466600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chrX:154449600-154466000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chrX:154450800-154470200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chrX:154452800-154468400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chrX:154453200-154467800	Strong transcription	Dnd41	blood
16	chrX:154453200-154469200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chrX:154454400-154468600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chrX:154455000-154468200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chrX:154455600-154468400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chrX:154456800-154470000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chrX:154457400-154467000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chrX:154457600-154469600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chrX:154457600-154469800	Weak transcription	NHDF-Ad	bronchial
24	chrX:154457600-154471800	Weak transcription	NH-A	brain
25	chrX:154458800-154466400	Weak transcription	Rectal Smooth Muscle	rectum
26	chrX:154459400-154467800	Weak transcription	Fetal Brain Male	brain
27	chrX:154459400-154467800	Weak transcription	Psoas Muscle	Psoas
28	chrX:154461000-154467800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chrX:154461000-154468600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chrX:154462600-154466600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chrX:154462800-154468200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chrX:154462800-154468600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chrX:154463000-154466600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chrX:154463200-154467200	Strong transcription	Duodenum Mucosa	Duodenum
35	chrX:154463400-154471400	Weak transcription	Fetal Kidney	kidney
36	chrX:154463800-154466200	Strong transcription	Hela-S3	cervix
37	chrX:154463800-154467200	Strong transcription	Primary hematopoietic stem cells	blood
38	chrX:154463800-154468400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chrX:154464000-154466600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chrX:154464000-154467200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chrX:154464000-154468400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chrX:154464000-154469200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chrX:154464200-154466600	Strong transcription	Fetal Muscle Leg	muscle
44	chrX:154464200-154466800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chrX:154464200-154467400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chrX:154464200-154467800	Strong transcription	Primary B cells from peripheral blood	blood
47	chrX:154464200-154467800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chrX:154464400-154466600	Strong transcription	Primary B cells from cord blood	blood
49	chrX:154464400-154467600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chrX:154464400-154467800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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