Variant report

Variant	rs12132665
Chromosome Location	chr1:224832815-224832816
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224832200..224833011-chr1:224921824..224922821,2	MCF-7	breast:
2	chr1:224831973..224833573-chr1:225038934..225041311,18	MCF-7	breast:
3	chr1:224832157..224833040-chr1:224961843..224962368,3	MCF-7	breast:
4	chr1:224702056..224704191-chr1:224831412..224833882,2	MCF-7	breast:
5	chr1:224831768..224834375-chr1:225108469..225110982,2	K562	blood:
6	chr1:224826905..224830184-chr1:224832363..224835221,3	K562	blood:
7	chr1:224832017..224832901-chr1:225040400..225040962,2	MCF-7	breast:
8	chr1:224831953..224832918-chr1:225040401..225041278,3	K562	blood:
9	chr1:224832360..224832914-chr1:225110011..225110793,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10799277	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs10799590	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10915684	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10915694	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs10915696	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs10915698	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs10915699	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs12092438	0.93[EUR][1000 genomes]
rs12121558	0.88[CEU][hapmap]
rs12124262	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs12130499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13374487	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs1369847	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1436169	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1436171	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs1436172	0.95[CEU][hapmap]
rs1465768	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs1603917	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1603918	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs169888	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1965777	0.87[EUR][1000 genomes]
rs2405525	0.87[EUR][1000 genomes]
rs2648746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2897161	0.87[EUR][1000 genomes]
rs2936575	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs298732	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs298733	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs298734	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs298735	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs298738	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs298739	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2993124	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3012185	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4147293	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4653402	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4653404	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4653591	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4653592	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56881651	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61676104	0.86[EUR][1000 genomes]
rs6667034	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6686604	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs6686633	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs67817586	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs713098	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];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7511897	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs7521396	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7535296	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7537973	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7542431	0.82[EUR][1000 genomes]
rs7542995	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs7543218	0.92[EUR][1000 genomes]
rs7544312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7545574	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs873594	0.80[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
2	chr1:224826000-224839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224826400-224837800	Weak transcription	NHLF	lung
4	chr1:224827000-224839800	Weak transcription	HSMM	muscle
5	chr1:224828600-224834000	Weak transcription	Pancreas	Pancrea
6	chr1:224828600-224837800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:224829800-224833200	Weak transcription	HSMMtube	muscle
9	chr1:224829800-224835200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:224830800-224835200	Weak transcription	NH-A	brain
11	chr1:224831600-224833800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:224831600-224835600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:224832200-224833200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:224832200-224839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:224832400-224833400	Enhancers	Brain Germinal Matrix	brain
17	chr1:224832400-224833600	Enhancers	NHDF-Ad	bronchial
18	chr1:224832600-224833000	Enhancers	Fetal Intestine Small	intestine
19	chr1:224832600-224833200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:224832600-224833400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:224832800-224833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:224832800-224833400	Enhancers	Fetal Brain Male	brain
23	chr1:224832800-224834200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:224832800-224837600	Weak transcription	Ovary	ovary
25	chr1:224832800-224838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:224832800-224869000	Weak transcription	Dnd41	blood

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