Variant report

Variant	rs57468476
Chromosome Location	chr7:4837957-4837958
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4836661..4838749-chr7:4922252..4923951,34	MCF-7	breast:
2	chr7:4830470..4833507-chr7:4836339..4839138,4	K562	blood:
3	chr7:4836973..4839244-chr7:4874732..4876620,2	K562	blood:
4	chr7:4837132..4838836-chr7:4922824..4924030,19	MCF-7	breast:
5	chr7:4837509..4838249-chr7:5126592..5127103,2	MCF-7	breast:
6	chr7:4837470..4838008-chr7:5126525..5127159,2	K562	blood:
7	chr7:4837541..4838410-chr7:5125029..5125763,4	MCF-7	breast:
8	chr7:4837502..4838178-chr7:4889155..4889775,2	MCF-7	breast:
9	chr7:4837765..4838277-chr7:4869415..4870174,2	MCF-7	breast:
10	chr7:4650125..4650826-chr7:4837448..4838412,2	K562	blood:
11	chr7:4836637..4838191-chr7:4844182..4846190,2	K562	blood:
12	chr7:4828401..4832334-chr7:4833840..4840039,6	MCF-7	breast:
13	chr7:4836637..4839193-chr7:4844147..4845682,2	K562	blood:
14	chr7:4836464..4838525-chr7:4860229..4862035,2	MCF-7	breast:
15	chr7:4837390..4838683-chr7:4923091..4923965,6	K562	blood:
16	chr7:4836258..4838925-chr7:4843189..4845168,2	MCF-7	breast:
17	chr7:4837530..4838489-chr7:5124822..5125761,4	K562	blood:
18	chr7:4837705..4840224-chr7:4921777..4925523,3	K562	blood:
19	chr7:4837384..4838602-chr7:5124702..5125750,11	MCF-7	breast:
20	chr7:4815302..4817443-chr7:4835837..4838194,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction
ENSG00000157927	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10215582	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10232558	0.82[ASN][1000 genomes]
rs10258743	0.82[ASN][1000 genomes]
rs10270796	0.82[ASN][1000 genomes]
rs11764272	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764275	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11768079	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11769768	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11772411	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11970860	0.82[ASN][1000 genomes]
rs11974854	0.82[ASN][1000 genomes]
rs12701943	0.83[ASN][1000 genomes]
rs1553961	0.82[ASN][1000 genomes]
rs17135110	0.82[EUR][1000 genomes]
rs17135115	0.86[EUR][1000 genomes]
rs17135121	0.83[ASN][1000 genomes]
rs17135128	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17829969	0.90[ASN][1000 genomes]
rs2101517	0.93[ASN][1000 genomes]
rs2344724	0.82[ASN][1000 genomes]
rs2344725	0.82[ASN][1000 genomes]
rs28681436	0.82[ASN][1000 genomes]
rs2880933	0.86[ASN][1000 genomes]
rs3750012	0.84[ASN][1000 genomes]
rs3750013	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3816851	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55728141	0.82[ASN][1000 genomes]
rs57839509	0.82[ASN][1000 genomes]
rs59174566	0.83[ASN][1000 genomes]
rs59374668	0.82[ASN][1000 genomes]
rs59386173	0.88[EUR][1000 genomes]
rs59441267	0.90[ASN][1000 genomes]
rs6963791	0.82[ASN][1000 genomes]
rs6966329	0.82[ASN][1000 genomes]
rs73312621	0.82[ASN][1000 genomes]
rs73671922	0.83[ASN][1000 genomes]
rs749404	0.90[ASN][1000 genomes]
rs7801122	0.83[ASN][1000 genomes]
rs7803727	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv887382	chr7:4792762-4880954	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv887383	chr7:4817460-4845701	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
16	esv1846003	chr7:4817952-4845248	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
17	nsv605977	chr7:4820581-4841349	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
18	nsv887384	chr7:4820581-4851897	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
19	nsv887385	chr7:4820581-4860835	Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
20	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
21	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
22	esv1836977	chr7:4823971-4845701	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
23	nsv887386	chr7:4823971-4852682	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
24	nsv887387	chr7:4823971-4860835	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
25	nsv887388	chr7:4823971-4880954	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases
26	esv1814177	chr7:4825190-4842927	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
27	nsv605978	chr7:4828077-4854592	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
28	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
29	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4826200-4843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:4831800-4839400	Weak transcription	HMEC	breast
3	chr7:4832200-4847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:4832400-4838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:4832400-4857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:4832400-4859800	Weak transcription	Right Atrium	heart
7	chr7:4832600-4838000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:4832600-4839800	Weak transcription	Gastric	stomach
9	chr7:4832800-4838000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:4832800-4838000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:4832800-4838000	Weak transcription	Brain Anterior Caudate	brain
12	chr7:4832800-4838000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:4832800-4838000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:4832800-4838000	Weak transcription	Fetal Intestine Small	intestine
15	chr7:4832800-4838000	Weak transcription	Left Ventricle	heart
16	chr7:4832800-4838000	Weak transcription	Psoas Muscle	Psoas
17	chr7:4832800-4838000	Weak transcription	A549	lung
18	chr7:4832800-4838000	Weak transcription	HepG2	liver
19	chr7:4832800-4838800	Weak transcription	Fetal Brain Female	brain
20	chr7:4832800-4839000	Weak transcription	Thymus	Thymus
21	chr7:4832800-4839200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:4832800-4839600	Weak transcription	Pancreas	Pancrea
23	chr7:4832800-4840600	Weak transcription	Spleen	Spleen
24	chr7:4832800-4843400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:4832800-4847400	Weak transcription	Fetal Brain Male	brain
26	chr7:4832800-4852600	Weak transcription	Brain Germinal Matrix	brain
27	chr7:4833000-4838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:4833000-4838000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:4833000-4839400	Weak transcription	Adipose Nuclei	Adipose
30	chr7:4833000-4840600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:4833000-4843400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:4833000-4844800	Weak transcription	Lung	lung
33	chr7:4833200-4838000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:4833200-4838000	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:4834600-4838000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:4834600-4838000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:4834800-4839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:4834800-4839600	Weak transcription	K562	blood
39	chr7:4834800-4840000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:4834800-4840600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:4834800-4843400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:4834800-4849400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:4834800-4876800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:4835800-4839800	Enhancers	Fetal Heart	heart
45	chr7:4836200-4877600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:4836400-4838200	Enhancers	Fetal Muscle Leg	muscle
47	chr7:4836600-4838000	Weak transcription	Fetal Lung	lung
48	chr7:4837000-4838000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:4837000-4838000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:4837200-4838200	Enhancers	Right Ventricle	heart

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