Variant report

Variant	rs2072320
Chromosome Location	chr7:107834369-107834370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107826342..107829124-chr7:107830145..107834558,4	K562	blood:
2	chr7:107832494..107835185-chr7:107947670..107949448,2	MCF-7	breast:
3	chr7:107822244..107824154-chr7:107832754..107834609,2	MCF-7	breast:
4	chr7:107832223..107834725-chr7:107897549..107900223,2	MCF-7	breast:
5	chr7:107833470..107835396-chr7:108003003..108005025,2	MCF-7	breast:
6	chr7:107829350..107831359-chr7:107833411..107835612,3	K562	blood:
7	chr7:107829005..107831347-chr7:107833013..107835060,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10464622	0.95[EUR][1000 genomes]
rs10464623	0.95[EUR][1000 genomes]
rs10464625	0.95[EUR][1000 genomes]
rs10464626	0.95[EUR][1000 genomes]
rs10464627	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10464628	0.95[EUR][1000 genomes]
rs12665964	0.91[EUR][1000 genomes]
rs12667098	0.95[EUR][1000 genomes]
rs12667131	0.95[EUR][1000 genomes]
rs12667151	0.95[EUR][1000 genomes]
rs12667206	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12669568	1.00[EUR][1000 genomes]
rs12671199	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12672376	0.90[EUR][1000 genomes]
rs12674151	0.95[EUR][1000 genomes]
rs12674313	0.81[EUR][1000 genomes]
rs16872448	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16872449	1.00[EUR][1000 genomes]
rs16872465	1.00[EUR][1000 genomes]
rs16872472	1.00[EUR][1000 genomes]
rs17155207	1.00[EUR][1000 genomes]
rs17155253	1.00[EUR][1000 genomes]
rs17155277	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155280	1.00[EUR][1000 genomes]
rs17155301	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155316	1.00[EUR][1000 genomes]
rs17155345	0.95[EUR][1000 genomes]
rs17155362	1.00[EUR][1000 genomes]
rs17155369	1.00[EUR][1000 genomes]
rs2272618	1.00[EUR][1000 genomes]
rs2299998	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2300001	1.00[EUR][1000 genomes]
rs2300004	1.00[EUR][1000 genomes]
rs2300005	1.00[EUR][1000 genomes]
rs2300006	1.00[EUR][1000 genomes]
rs2300007	0.95[EUR][1000 genomes]
rs2300008	0.95[EUR][1000 genomes]
rs2300009	0.95[EUR][1000 genomes]
rs2300010	1.00[EUR][1000 genomes]
rs2300011	1.00[EUR][1000 genomes]
rs369884	0.88[ASN][1000 genomes]
rs3750140	1.00[EUR][1000 genomes]
rs3753152	1.00[EUR][1000 genomes]
rs379986	0.83[ASN][1000 genomes]
rs381318	0.83[ASN][1000 genomes]
rs3817670	1.00[EUR][1000 genomes]
rs383341	0.83[ASN][1000 genomes]
rs392704	0.83[ASN][1000 genomes]
rs392976	0.83[ASN][1000 genomes]
rs393245	0.88[ASN][1000 genomes]
rs397179	0.83[ASN][1000 genomes]
rs397704	0.83[ASN][1000 genomes]
rs402029	0.88[ASN][1000 genomes]
rs404287	0.83[ASN][1000 genomes]
rs425013	0.82[ASN][1000 genomes]
rs449540	0.83[ASN][1000 genomes]
rs449711	0.83[ASN][1000 genomes]
rs55772998	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58432175	1.00[EUR][1000 genomes]
rs58523350	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58799340	1.00[EUR][1000 genomes]
rs59173255	1.00[EUR][1000 genomes]
rs60368937	1.00[AMR][1000 genomes]
rs60503554	1.00[EUR][1000 genomes]
rs61040788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61057696	1.00[EUR][1000 genomes]
rs67456250	1.00[EUR][1000 genomes]
rs67592649	1.00[EUR][1000 genomes]
rs67940074	0.95[EUR][1000 genomes]
rs6956041	1.00[EUR][1000 genomes]
rs6956711	1.00[EUR][1000 genomes]
rs6958498	0.88[ASN][1000 genomes]
rs6964394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6966259	1.00[EUR][1000 genomes]
rs6970634	0.86[EUR][1000 genomes]
rs6978117	1.00[EUR][1000 genomes]
rs6978315	0.88[ASN][1000 genomes]
rs73197637	0.81[AMR][1000 genomes]
rs73197646	0.90[AMR][1000 genomes]
rs73199578	1.00[EUR][1000 genomes]
rs73199594	0.95[EUR][1000 genomes]
rs73199595	0.95[EUR][1000 genomes]
rs73199599	0.95[EUR][1000 genomes]
rs73199600	0.95[EUR][1000 genomes]
rs73201503	1.00[EUR][1000 genomes]
rs73201504	1.00[EUR][1000 genomes]
rs73201511	1.00[EUR][1000 genomes]
rs73201512	1.00[EUR][1000 genomes]
rs73201513	1.00[EUR][1000 genomes]
rs73201515	1.00[EUR][1000 genomes]
rs73414373	1.00[EUR][1000 genomes]
rs73727511	0.95[EUR][1000 genomes]
rs73727512	0.95[EUR][1000 genomes]
rs7777092	1.00[EUR][1000 genomes]
rs7777322	1.00[EUR][1000 genomes]
rs7783944	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784319	1.00[EUR][1000 genomes]
rs7784353	1.00[EUR][1000 genomes]
rs7785181	1.00[EUR][1000 genomes]
rs7796457	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9641405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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:46 , 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	chr7:107820800-107834600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:107820800-107840800	Weak transcription	Placenta	Placenta
8	chr7:107820800-107846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:107820800-107850600	Weak transcription	Fetal Intestine Large	intestine
10	chr7:107820800-107851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:107821000-107852200	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:107821600-107850400	Weak transcription	Fetal Brain Male	brain
13	chr7:107823200-107834400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:107827600-107836600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:107827800-107836000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:107828000-107852000	Weak transcription	Pancreas	Pancrea
17	chr7:107828600-107838200	Strong transcription	A549	lung
18	chr7:107828800-107846600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:107828800-107851400	Weak transcription	Fetal Intestine Small	intestine
20	chr7:107829600-107848600	Weak transcription	Brain Anterior Caudate	brain
21	chr7:107830200-107834400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:107830200-107836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:107830400-107839800	Weak transcription	Brain Substantia Nigra	brain
24	chr7:107830400-107857200	Weak transcription	Fetal Brain Female	brain
25	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:107831000-107835000	Weak transcription	Thymus	Thymus
27	chr7:107831600-107836200	Weak transcription	HSMM	muscle
28	chr7:107831800-107835400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:107832000-107836200	Weak transcription	Osteobl	bone
30	chr7:107832000-107836400	Weak transcription	NHDF-Ad	bronchial
31	chr7:107832200-107835000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:107832400-107835800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:107832600-107835000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:107833200-107836400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:107833600-107835200	Enhancers	K562	blood
36	chr7:107833600-107835400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:107833800-107834600	Flanking Active TSS	Hela-S3	cervix
38	chr7:107833800-107835000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:107833800-107835200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:107833800-107835600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:107833800-107835600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:107834000-107835400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:107834000-107835400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:107834200-107834800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:107834200-107835000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:107834200-107835400	Strong transcription	HUVEC	blood vessel

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