Variant report

Variant	rs2367233
Chromosome Location	chr2:86541666-86541667
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86535378..86537907-chr2:86539539..86542949,4	MCF-7	breast:
2	chr2:86536580..86540172-chr2:86541032..86544003,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10189492	0.88[CEU][hapmap]
rs10195199	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs10200526	0.85[CEU][hapmap]
rs10200619	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10496318	1.00[YRI][hapmap]
rs10520415	0.84[CEU][hapmap]
rs11127026	0.84[CEU][hapmap]
rs11127029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11395	1.00[YRI][hapmap]
rs11685863	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11691122	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12472390	0.85[CEU][hapmap]
rs12472676	0.85[CEU][hapmap]
rs12476706	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs12478575	0.85[CEU][hapmap]
rs12620833	0.85[CEU][hapmap]
rs12622200	0.84[CEU][hapmap]
rs12714178	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12714179	0.88[CEU][hapmap]
rs12714180	0.85[CEU][hapmap]
rs12999029	0.84[CEU][hapmap]
rs13007807	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs13015186	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13017143	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13017338	0.85[CEU][hapmap]
rs13018801	0.80[ASN][1000 genomes]
rs13023154	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs13024964	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs13421310	0.85[CEU][hapmap]
rs17737955	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17738096	0.84[CEU][hapmap]
rs1863051	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1863052	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2241438	1.00[YRI][hapmap]
rs2278105	0.81[CEU][hapmap]
rs2288115	1.00[YRI][hapmap]
rs4392258	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4832033	0.82[CEU][hapmap]
rs6547674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6713456	0.85[CEU][hapmap]
rs6714362	0.84[CEU][hapmap]
rs6725234	0.81[CEU][hapmap]
rs6746198	0.93[CEU][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7422930	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7571424	0.84[CEU][hapmap]
rs7593440	0.93[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8244	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2367233	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs2367233	IMMT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86533000-86542800	Weak transcription	Fetal Intestine Small	intestine
2	chr2:86533200-86563000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:86536200-86559800	Weak transcription	HSMMtube	muscle
4	chr2:86536800-86542200	Weak transcription	Right Atrium	heart
5	chr2:86537600-86563000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:86538600-86542400	Weak transcription	Psoas Muscle	Psoas
7	chr2:86539200-86542200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:86539400-86552000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:86540000-86542200	Weak transcription	Fetal Heart	heart
10	chr2:86540600-86542200	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:86540800-86543000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:86541000-86543000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:86541200-86541800	Bivalent Enhancer	Fetal Stomach	stomach
14	chr2:86541200-86543200	Enhancers	Right Ventricle	heart
15	chr2:86541400-86542400	Weak transcription	Pancreas	Pancrea
16	chr2:86541400-86543200	Enhancers	Left Ventricle	heart
17	chr2:86541400-86551600	Weak transcription	Fetal Brain Female	brain
18	chr2:86541600-86547000	Weak transcription	Colon Smooth Muscle	Colon

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