Variant report

Variant	rs2194486
Chromosome Location	chr2:86336048-86336049
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	chr2:85829062..85831437-chr2:86335233..86337580,2	MCF-7	breast:
2	chr2:86335884..86339604-chr2:86348424..86352385,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168890	Chromatin interaction
ENSG00000168883	Chromatin interaction
ENSG00000132300	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10173155	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10208184	0.82[ASN][1000 genomes]
rs1050301	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11127016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127019	1.00[YRI][hapmap]
rs11127024	1.00[YRI][hapmap]
rs1131071	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11676515	1.00[YRI][hapmap]
rs11685551	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11689971	1.00[YRI][hapmap]
rs11900161	0.86[CHB][hapmap]
rs13005014	1.00[YRI][hapmap]
rs13024436	1.00[YRI][hapmap]
rs1559514	1.00[YRI][hapmap]
rs17438451	1.00[YRI][hapmap]
rs17584697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17618119	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs17738058	1.00[YRI][hapmap]
rs1863056	1.00[YRI][hapmap]
rs1863057	1.00[YRI][hapmap]
rs1863060	1.00[YRI][hapmap]
rs1863061	1.00[YRI][hapmap]
rs2042502	1.00[YRI][hapmap]
rs2081322	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2113615	1.00[YRI][hapmap]
rs2241432	0.81[CHB][hapmap];1.00[YRI][hapmap]
rs2288122	0.82[CHB][hapmap]
rs2303338	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2367200	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886885	0.82[ASN][1000 genomes]
rs311564	0.84[ASN][1000 genomes]
rs311576	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs311578	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs311579	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs311585	0.84[ASN][1000 genomes]
rs311588	0.84[ASN][1000 genomes]
rs3731818	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3764949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764950	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821017	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4344936	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832233	1.00[CHB][hapmap]
rs4832240	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832263	1.00[YRI][hapmap]
rs4832272	1.00[YRI][hapmap]
rs62147717	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6725046	0.86[CHB][hapmap]
rs6731358	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717144	0.93[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs72847885	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567380	0.84[ASN][1000 genomes]
rs7569654	1.00[YRI][hapmap]
rs7575430	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs965636	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats 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
5	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer 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
6	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS 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
7	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS 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
8	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS 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
9	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS 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
10	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats 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
11	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS 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
13	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS 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
14	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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
15	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats 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
16	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats 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
18	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2194486	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs2194486	MRPL35	cis	uninvolved skin	skin_eQTL
rs2194486	MRPL35	cis	normal skin	skin_eQTL
rs2194486	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	chr2:86334000-86337600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:86334000-86337800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:86334000-86339200	Weak transcription	Lung	lung
4	chr2:86334200-86337800	Weak transcription	Aorta	Aorta
5	chr2:86334200-86342000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:86334400-86336600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:86334400-86337600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:86334400-86337600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:86334400-86337600	Weak transcription	Spleen	Spleen
10	chr2:86334400-86337800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:86334400-86338000	Weak transcription	Gastric	stomach
12	chr2:86334400-86339400	Weak transcription	Ovary	ovary
13	chr2:86334400-86340600	Weak transcription	Esophagus	oesophagus
14	chr2:86334400-86342000	Weak transcription	Pancreas	Pancrea
15	chr2:86334400-86362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:86334600-86336600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:86334600-86336600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:86334600-86336600	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:86334600-86337600	Weak transcription	Thymus	Thymus
20	chr2:86334600-86339600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:86334600-86339800	Weak transcription	Colonic Mucosa	Colon
22	chr2:86334800-86336600	Weak transcription	Fetal Brain Male	brain
23	chr2:86334800-86337600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:86334800-86337800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:86334800-86341400	Weak transcription	Small Intestine	intestine
26	chr2:86334800-86344400	Weak transcription	Stomach Mucosa	stomach
27	chr2:86335000-86336200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:86335000-86336600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:86335000-86336600	Weak transcription	Primary B cells from cord blood	blood
30	chr2:86335000-86336600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:86335000-86336800	Weak transcription	NHDF-Ad	bronchial
32	chr2:86335000-86337600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:86335000-86337600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:86335000-86337600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:86335000-86337600	Weak transcription	Fetal Stomach	stomach
36	chr2:86335000-86337600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:86335000-86340400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:86335000-86342400	Weak transcription	Fetal Kidney	kidney
39	chr2:86335000-86379000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:86335000-86409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:86335200-86336400	Weak transcription	Osteobl	bone
42	chr2:86335200-86336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:86335200-86336600	Weak transcription	Primary T cells from cord blood	blood
44	chr2:86335200-86336600	Weak transcription	Brain Anterior Caudate	brain
45	chr2:86335200-86336600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:86335200-86336600	Weak transcription	NHLF	lung
47	chr2:86335200-86336800	Weak transcription	Fetal Lung	lung
48	chr2:86335200-86337000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:86335200-86337000	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:86335200-86337600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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