Variant report

Variant	rs314324
Chromosome Location	chr7:100433794-100433795
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100395758..100398887-chr7:100432685..100435250,3	K562	blood:
2	chr7:100433551..100436484-chr7:100455995..100458424,2	MCF-7	breast:
3	chr7:100433653..100435265-chr7:100487454..100490757,3	MCF-7	breast:
4	chr7:100396999..100399481-chr7:100432100..100434547,2	MCF-7	breast:
5	chr7:100433647..100436393-chr7:100462974..100466470,4	MCF-7	breast:
6	chr7:100427087..100431759-chr7:100432300..100436126,8	K562	blood:
7	chr7:100302002..100304028-chr7:100432602..100435007,2	K562	blood:
8	chr7:100433315..100435952-chr7:100463569..100466337,4	MCF-7	breast:
9	chr7:100075692..100077852-chr7:100432522..100434614,2	K562	blood:
10	chr7:100302373..100305778-chr7:100432602..100436293,5	K562	blood:
11	chr7:100395163..100402625-chr7:100430790..100439308,9	K562	blood:
12	chr7:100421982..100426777-chr7:100433166..100437776,11	MCF-7	breast:
13	chr7:100182494..100184501-chr7:100433559..100435165,2	K562	blood:
14	chr7:100302203..100304565-chr7:100433455..100435641,2	MCF-7	breast:
15	chr7:100433568..100436428-chr7:100463432..100465884,2	K562	blood:
16	chr7:100025953..100027700-chr7:100433744..100436385,2	K562	blood:
17	chr7:100432969..100436551-chr7:100449855..100451873,3	MCF-7	breast:
18	chr7:100427050..100428595-chr7:100433038..100435319,2	MCF-7	breast:
19	chr7:100399758..100401974-chr7:100433436..100436499,4	MCF-7	breast:
20	chr7:100433561..100436547-chr7:100492248..100493882,2	K562	blood:
21	chr7:100433319..100435177-chr7:100470244..100472636,2	MCF-7	breast:
22	chr7:100424956..100426805-chr7:100433115..100435139,3	K562	blood:
23	chr7:100415072..100417547-chr7:100433376..100435074,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172336	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12666989	0.84[ASN][1000 genomes]
rs12667888	0.84[ASN][1000 genomes]
rs12705089	0.84[ASN][1000 genomes]
rs12705090	0.84[ASN][1000 genomes]
rs12705092	0.84[ASN][1000 genomes]
rs12705095	0.84[ASN][1000 genomes]
rs221005	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs314307	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs314308	1.00[CHB][hapmap]
rs314312	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs314313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs314314	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs314316	0.83[ASN][1000 genomes]
rs314317	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs314318	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs314323	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs314354	0.86[EUR][1000 genomes]
rs314370	0.84[ASN][1000 genomes]
rs314373	0.84[ASN][1000 genomes]
rs3757868	0.84[ASN][1000 genomes]
rs6706	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100426400-100433800	Weak transcription	Right Atrium	heart
2	chr7:100427200-100434600	Weak transcription	Ovary	ovary
3	chr7:100430000-100433800	Weak transcription	A549	lung
4	chr7:100430600-100433800	Weak transcription	Pancreas	Pancrea
5	chr7:100431200-100434200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:100431800-100434600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:100432400-100433800	Weak transcription	Spleen	Spleen
8	chr7:100433000-100434600	Enhancers	K562	blood
9	chr7:100433200-100433800	Enhancers	HUVEC	blood vessel
10	chr7:100433200-100434200	Enhancers	Fetal Intestine Large	intestine
11	chr7:100433200-100434600	Enhancers	Fetal Heart	heart
12	chr7:100433400-100433800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr7:100433400-100433800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
14	chr7:100433400-100433800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:100433400-100433800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:100433400-100433800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:100433400-100433800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:100433400-100433800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:100433400-100433800	Enhancers	Fetal Kidney	kidney
20	chr7:100433400-100434000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
21	chr7:100433400-100434000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:100433400-100434000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr7:100433400-100434000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:100433400-100434000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:100433400-100434000	Enhancers	NHEK	skin
26	chr7:100433400-100434200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:100433400-100434200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:100433400-100434200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:100433400-100434200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr7:100433400-100434200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:100433400-100434200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:100433400-100434200	Enhancers	Duodenum Mucosa	Duodenum
33	chr7:100433400-100434200	Enhancers	Fetal Intestine Small	intestine
34	chr7:100433400-100434200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:100433400-100434400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:100433400-100434400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:100433400-100434400	Enhancers	Right Ventricle	heart
38	chr7:100433400-100434400	Flanking Active TSS	HepG2	liver
39	chr7:100433400-100434600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:100433400-100434600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:100433400-100434600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:100433400-100434600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:100433400-100434600	Enhancers	Adipose Nuclei	Adipose
44	chr7:100433400-100434600	Enhancers	Liver	Liver
45	chr7:100433400-100434600	Enhancers	Fetal Lung	lung
46	chr7:100433400-100434600	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:100433400-100434600	Enhancers	Fetal Muscle Leg	muscle
48	chr7:100433400-100434600	Enhancers	Fetal Stomach	stomach
49	chr7:100433400-100434600	Enhancers	Left Ventricle	heart
50	chr7:100433400-100434600	Enhancers	Stomach Mucosa	stomach

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