Variant report

Variant	rs314370
Chromosome Location	chr7:100453208-100453209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100422507..100426422-chr7:100448675..100454510,8	MCF-7	breast:
2	chr7:100180512..100183004-chr7:100452297..100454557,2	MCF-7	breast:
3	chr7:100450060..100453457-chr7:100456779..100461941,7	MCF-7	breast:
4	chr7:100452256..100454865-chr7:100471094..100473854,2	K562	blood:
5	chr7:100448750..100454655-chr7:100469427..100474218,6	MCF-7	breast:
6	chr7:100448977..100453392-chr7:100463620..100466806,5	K562	blood:
7	chr7:100449276..100451751-chr7:100451970..100455988,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196411	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000087077	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12666989	1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12667888	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705089	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705090	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705091	1.00[ASW][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12705092	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705095	0.86[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705096	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13226502	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13226864	0.84[EUR][1000 genomes]
rs13244629	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13245899	1.00[YRI][hapmap]
rs13306969	0.81[CEU][hapmap]
rs17881696	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17883557	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17884589	0.82[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs221005	1.00[CHB][hapmap]
rs314308	1.00[CHB][hapmap]
rs314311	1.00[CHB][hapmap]
rs314316	1.00[CHB][hapmap]
rs314324	0.84[ASN][1000 genomes]
rs314346	1.00[CHB][hapmap]
rs314361	1.00[CHB][hapmap]
rs314373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757868	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6706	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
9	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
10	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
12	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
14	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
15	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Resting heart rate	20639392	GWAS catalog

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs314370	C7orf59	cis	parietal	SCAN
rs314370	MCM7	cis	cerebellum	SCAN
rs314370	ACHE	cis	Nerve Tibial	GTEx
rs314370	ALKBH4	cis	parietal	SCAN
rs314370	ALKBH4	cis	cerebellum	SCAN
rs314370	TRIM4	cis	cerebellum	SCAN
rs314370	ZNF3	cis	parietal	SCAN
rs314370	ACHE	cis	Artery Tibial	GTEx
rs314370	ACHE	cis	Artery Aorta	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100450800-100454200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:100450800-100454400	Weak transcription	Aorta	Aorta
3	chr7:100451000-100458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:100451000-100461200	Weak transcription	Stomach Mucosa	stomach
5	chr7:100451000-100463200	Weak transcription	HSMMtube	muscle
6	chr7:100451000-100464200	Weak transcription	Left Ventricle	heart
7	chr7:100451000-100464200	Weak transcription	Small Intestine	intestine
8	chr7:100451000-100464400	Weak transcription	Fetal Kidney	kidney
9	chr7:100451200-100454200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:100451200-100454400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:100451200-100454800	Weak transcription	Pancreas	Pancrea
12	chr7:100451200-100455200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:100451200-100456200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:100451200-100456200	Weak transcription	Brain Germinal Matrix	brain
15	chr7:100451200-100456200	Weak transcription	Colonic Mucosa	Colon
16	chr7:100451200-100456400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:100451200-100456400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:100451200-100456400	Weak transcription	Fetal Intestine Large	intestine
19	chr7:100451200-100456800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:100451200-100456800	Weak transcription	Brain Angular Gyrus	brain
21	chr7:100451200-100457400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:100451200-100457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:100451200-100457600	Weak transcription	Right Ventricle	heart
24	chr7:100451200-100457800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:100451200-100457800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:100451200-100457800	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:100451200-100457800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:100451200-100457800	Weak transcription	Osteobl	bone
29	chr7:100451200-100458200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:100451200-100458200	Weak transcription	HUVEC	blood vessel
31	chr7:100451200-100460200	Weak transcription	HepG2	liver
32	chr7:100451200-100460400	Weak transcription	Liver	Liver
33	chr7:100451200-100460800	Weak transcription	NH-A	brain
34	chr7:100451200-100461200	Weak transcription	HSMM	muscle
35	chr7:100451200-100463200	Weak transcription	A549	lung
36	chr7:100451200-100463200	Weak transcription	Hela-S3	cervix
37	chr7:100451200-100463200	Weak transcription	NHDF-Ad	bronchial
38	chr7:100451200-100463800	Weak transcription	Right Atrium	heart
39	chr7:100451200-100464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:100451400-100453400	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:100451400-100454200	Weak transcription	Fetal Thymus	thymus
42	chr7:100451400-100454600	Weak transcription	Adipose Nuclei	Adipose
43	chr7:100451400-100454600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:100451400-100454800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:100451400-100456200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:100451400-100457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:100451400-100457600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:100451400-100457600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:100451400-100457600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:100451400-100457600	Weak transcription	HMEC	breast

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