Variant report

Variant	rs35296872
Chromosome Location	chrX:154454087-154454088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:154448976..154450655-chrX:154453417..154455204,2	MCF-7	breast:
2	chrX:154451380..154454966-chrX:154458242..154462042,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11156600	0.85[ASW][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap]
rs11887	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap]
rs12013168	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs1393999	0.91[CHB][hapmap]
rs3105275	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap]
rs3105276	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs480210	0.91[CHB][hapmap];0.94[MEX][hapmap]
rs4893113	0.91[CHB][hapmap]
rs492622	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]
rs496740	0.91[CHB][hapmap]
rs499428	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]
rs499669	1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap]
rs504984	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]
rs507127	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]
rs516396	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[TSI][hapmap]
rs519641	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs520145	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs523614	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]
rs524609	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]
rs525161	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.87[TSI][hapmap]
rs533001	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs542899	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs543054	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs544582	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]
rs547724	0.91[CHB][hapmap];0.84[MEX][hapmap]
rs559165	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]
rs568396	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[TSI][hapmap]
rs573189	0.91[CHB][hapmap];0.83[MEX][hapmap]
rs573572	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[TSI][hapmap]
rs5983697	1.00[CHB][hapmap]
rs5983764	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs5987090	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs6567813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[LWK][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap]
rs782769	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35296872	TMLHE	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154445000-154460600	Weak transcription	Stomach Mucosa	stomach
2	chrX:154445400-154465400	Weak transcription	Spleen	Spleen
3	chrX:154445600-154456200	Weak transcription	Left Ventricle	heart
4	chrX:154445600-154456400	Weak transcription	Rectal Smooth Muscle	rectum
5	chrX:154445600-154465000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chrX:154445600-154465400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chrX:154445600-154465400	Weak transcription	Gastric	stomach
8	chrX:154445600-154465800	Weak transcription	Esophagus	oesophagus
9	chrX:154445600-154467800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chrX:154445600-154471800	Weak transcription	Aorta	Aorta
11	chrX:154446000-154456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chrX:154446000-154463200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chrX:154446200-154455600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chrX:154446200-154456200	Weak transcription	Fetal Muscle Leg	muscle
15	chrX:154446200-154456200	Weak transcription	Ovary	ovary
16	chrX:154446200-154460800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chrX:154446200-154465600	Weak transcription	Colon Smooth Muscle	Colon
18	chrX:154446200-154468000	Weak transcription	Brain Substantia Nigra	brain
19	chrX:154446200-154469800	Weak transcription	Right Ventricle	heart
20	chrX:154446400-154455400	Weak transcription	HSMM	muscle
21	chrX:154446400-154455600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chrX:154446400-154455600	Weak transcription	NH-A	brain
23	chrX:154446400-154456200	Weak transcription	Osteobl	bone
24	chrX:154446400-154459400	Weak transcription	NHEK	skin
25	chrX:154446400-154465200	Weak transcription	NHLF	lung
26	chrX:154446400-154465400	Weak transcription	HSMMtube	muscle
27	chrX:154446400-154467800	Weak transcription	Pancreas	Pancrea
28	chrX:154446400-154471400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chrX:154446400-154472000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chrX:154446600-154464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chrX:154446800-154454600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chrX:154446800-154455400	Weak transcription	HMEC	breast
33	chrX:154446800-154460800	Weak transcription	HUVEC	blood vessel
34	chrX:154447000-154454800	Weak transcription	NHDF-Ad	bronchial
35	chrX:154447000-154455600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chrX:154447000-154455600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chrX:154447000-154456000	Weak transcription	Stomach Smooth Muscle	stomach
38	chrX:154447200-154455400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chrX:154447200-154455600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chrX:154447200-154456200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chrX:154447200-154456200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chrX:154447200-154456800	Weak transcription	HepG2	liver
43	chrX:154447200-154465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chrX:154447200-154465400	Weak transcription	Brain Cingulate Gyrus	brain
45	chrX:154447200-154465400	Weak transcription	Fetal Heart	heart
46	chrX:154447200-154465400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chrX:154447200-154467600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chrX:154447200-154471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chrX:154447400-154454200	Weak transcription	Liver	Liver
50	chrX:154447400-154455600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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