Variant report

Variant	rs10173155
Chromosome Location	chr2:86253581-86253582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86114460..86116872-chr2:86251867..86254759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10186005	0.80[CEU][hapmap]
rs10208184	0.95[ASN][1000 genomes]
rs1036553	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11127016	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11900161	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs17584697	1.00[CHB][hapmap]
rs2059352	0.83[ASN][1000 genomes]
rs2083168	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2099616	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2099617	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2194486	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2241432	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2288122	0.82[CHB][hapmap]
rs2303338	1.00[CHB][hapmap]
rs2886885	0.96[ASN][1000 genomes]
rs311564	0.94[ASN][1000 genomes]
rs311576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs311578	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs311579	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs311585	0.94[ASN][1000 genomes]
rs311588	0.94[ASN][1000 genomes]
rs3731818	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs3764949	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs3764950	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs3821017	0.90[CHB][hapmap]
rs3937593	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4344936	0.81[ASN][1000 genomes]
rs4832233	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4832240	0.82[ASN][1000 genomes]
rs6547653	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547654	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547655	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6725046	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs6731358	1.00[CHB][hapmap]
rs717144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[ASN][1000 genomes]
rs72847885	0.81[ASN][1000 genomes]
rs7571529	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586985	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7595420	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7599326	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606897	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7607138	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879649	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs893442	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs934829	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs934831	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs965636	1.00[CHB][hapmap]

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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10173155	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs10173155	IMMT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86244200-86257000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:86244400-86255000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:86244600-86255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:86244600-86257200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:86244800-86253600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:86245400-86254000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:86245400-86254600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:86245400-86257200	Weak transcription	Stomach Mucosa	stomach
9	chr2:86245400-86257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:86245400-86263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:86245600-86253600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:86248400-86254200	Weak transcription	NHDF-Ad	bronchial
13	chr2:86248800-86257000	Weak transcription	Psoas Muscle	Psoas
14	chr2:86248800-86257200	Weak transcription	Fetal Kidney	kidney
15	chr2:86249000-86254200	Weak transcription	HUVEC	blood vessel
16	chr2:86249000-86255200	Weak transcription	Right Atrium	heart
17	chr2:86250800-86262200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:86251000-86253800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:86251000-86261000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:86251000-86262000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:86251000-86262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:86251000-86262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:86251200-86253800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:86251200-86254000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:86251200-86255000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr2:86251200-86255800	Genic enhancers	Fetal Thymus	thymus
27	chr2:86251200-86261600	Strong transcription	NH-A	brain
28	chr2:86251200-86261800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:86251200-86262400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:86251200-86262800	Strong transcription	Fetal Brain Female	brain
31	chr2:86251200-86263200	Strong transcription	A549	lung
32	chr2:86251200-86273200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr2:86251200-86283000	Strong transcription	HepG2	liver
35	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:86251400-86253600	Weak transcription	Small Intestine	intestine
39	chr2:86251400-86254000	Weak transcription	Fetal Heart	heart
40	chr2:86251400-86254600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:86251400-86254600	Strong transcription	HSMMtube	muscle
42	chr2:86251400-86255800	Strong transcription	K562	blood
43	chr2:86251400-86261000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:86251400-86261000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:86251400-86261200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:86251400-86262000	Strong transcription	Osteobl	bone
47	chr2:86251400-86262800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:86251400-86263400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:86251600-86261600	Strong transcription	HMEC	breast
50	chr2:86251800-86259400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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