Variant report

Variant	rs12531607
Chromosome Location	chr7:107842546-107842547
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107828964..107830718-chr7:107841950..107844146,2	K562	blood:
2	chr7:107841839..107843795-chr7:107987089..107988899,2	MCF-7	breast:
3	chr7:107841455..107844662-chr7:107849026..107852619,4	MCF-7	breast:
4	chr7:107840521..107844716-chr7:107989632..107993969,4	MCF-7	breast:
5	chr7:107842097..107844084-chr7:107941561..107943071,2	MCF-7	breast:
6	chr7:107834408..107836242-chr7:107841552..107843873,2	MCF-7	breast:
7	chr7:107841940..107843494-chr7:107987428..107990153,2	MCF-7	breast:
8	chr7:107840154..107842979-chr7:107937702..107939902,2	MCF-7	breast:
9	chr7:107838620..107843312-chr7:108093150..108098167,6	MCF-7	breast:
10	chr7:107842229..107845606-chr7:107845619..107847429,4	MCF-7	breast:
11	chr7:107840763..107848322-chr7:108091812..108097680,8	MCF-7	breast:
12	chr7:107842321..107844505-chr7:107849446..107853483,3	MCF-7	breast:
13	chr7:107840675..107842857-chr7:107846031..107847571,2	K562	blood:
14	chr7:107839156..107844072-chr7:107845606..107848458,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10487842	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10487843	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10953560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11978605	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11980184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11980771	0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap]
rs11984362	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12534073	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs12534706	0.84[ASN][1000 genomes]
rs12538125	0.95[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes]
rs1269639	0.92[JPT][hapmap]
rs12705439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13228675	0.84[ASN][1000 genomes]
rs13231463	0.80[AFR][1000 genomes]
rs13237289	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs13242621	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs13245910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1548950	0.81[AMR][1000 genomes]
rs17155187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17155196	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs17155335	0.83[MEX][hapmap]
rs2191046	0.90[ASN][1000 genomes]
rs2193252	0.81[AMR][1000 genomes]
rs2193253	0.86[AMR][1000 genomes]
rs2193254	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2267876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2267877	0.81[AMR][1000 genomes]
rs2267878	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[AMR][1000 genomes]
rs2272617	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes]
rs2299992	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2299996	0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2299999	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2300000	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs2300002	0.81[AMR][1000 genomes]
rs3819747	0.82[EUR][1000 genomes]
rs67133820	0.87[ASN][1000 genomes]
rs6958333	0.82[AMR][1000 genomes]
rs6970096	0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs6977003	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6980041	0.84[ASN][1000 genomes]
rs71568512	0.80[ASN][1000 genomes]
rs73199565	0.81[AMR][1000 genomes]
rs7783282	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7784186	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7789291	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[ASN][1000 genomes]
rs7795834	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs7796675	0.91[ASN][1000 genomes]
rs7809003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs926146	0.83[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv888941	chr7:107796150-107863395	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1030222	chr7:107809927-107844916	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
3	chr7:107818200-107851800	Weak transcription	HSMMtube	muscle
4	chr7:107818600-107848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:107820600-107867400	Weak transcription	Brain Angular Gyrus	brain
6	chr7:107820800-107846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:107820800-107850600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:107820800-107851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:107821000-107852200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:107821600-107850400	Weak transcription	Fetal Brain Male	brain
11	chr7:107828000-107852000	Weak transcription	Pancreas	Pancrea
12	chr7:107828800-107846600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:107828800-107851400	Weak transcription	Fetal Intestine Small	intestine
14	chr7:107829600-107848600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:107830400-107857200	Weak transcription	Fetal Brain Female	brain
16	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:107835000-107851400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:107835400-107845400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:107835600-107844200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:107836000-107844800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:107836600-107843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:107836800-107851200	Weak transcription	HMEC	breast
23	chr7:107836800-107852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:107838600-107844400	Weak transcription	HUVEC	blood vessel
25	chr7:107839400-107843400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:107841000-107844000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:107841200-107850000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:107841200-107851800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:107841400-107845400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:107841600-107843000	Enhancers	A549	lung
31	chr7:107841800-107842600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:107841800-107842800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr7:107841800-107844400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr7:107841800-107844400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:107841800-107851800	Weak transcription	Placenta	Placenta
36	chr7:107842000-107843600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:107842000-107843600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:107842000-107843800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:107842400-107843200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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