Variant report

Variant	rs2227605
Chromosome Location	chr1:173881295-173881296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173872208..173874805-chr1:173880498..173882579,2	K562	blood:
2	chr1:173826383..173830416-chr1:173877536..173882048,5	MCF-7	breast:
3	chr1:173834428..173840700-chr1:173878764..173885322,14	MCF-7	breast:
4	chr1:173835651..173839404-chr1:173878959..173883807,5	K562	blood:
5	chr1:173868345..173870292-chr1:173879579..173881405,2	K562	blood:
6	chr1:173835432..173839472-chr1:173878792..173882155,3	K562	blood:

Variant related genes	Relation type
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000208317	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158274	1.00[AMR][1000 genomes]
rs10159349	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12239406	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13313018	1.00[AMR][1000 genomes]
rs13353004	0.83[AFR][1000 genomes]
rs13353023	1.00[YRI][hapmap]
rs13375569	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376339	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227621	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4650988	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4652416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425252	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7349122	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7349166	1.00[AFR][1000 genomes]
rs7525411	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7536930	0.83[AFR][1000 genomes]
rs9286893	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425412	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425417	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425732	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425733	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425737	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425739	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425743	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425744	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9425767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9425771	1.00[AFR][1000 genomes]
rs9425777	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9425778	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]

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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173856000-173883000	Weak transcription	Right Ventricle	heart
2	chr1:173856600-173907200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:173857000-173883800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:173857400-173881800	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:173857400-173884400	Weak transcription	HepG2	liver
6	chr1:173857400-173885800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:173857400-173902000	Weak transcription	HSMMtube	muscle
8	chr1:173858200-173902800	Weak transcription	Left Ventricle	heart
9	chr1:173858600-173881400	Weak transcription	Primary B cells from cord blood	blood
10	chr1:173858600-173886800	Weak transcription	Placenta	Placenta
11	chr1:173862000-173891600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:173864600-173886600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:173870000-173898000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:173870400-173887400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:173871200-173908400	Weak transcription	Spleen	Spleen
16	chr1:173872400-173896200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:173874400-173899800	Weak transcription	Primary T cells from cord blood	blood
18	chr1:173876400-173884000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:173878600-173883200	Genic enhancers	Liver	Liver
20	chr1:173879000-173883800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:173879200-173899400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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