Variant report

Variant	rs2101517
Chromosome Location	chr7:4835386-4835387
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4834373..4836925-chr7:4840140..4842359,2	K562	blood:
2	chr7:4828401..4832334-chr7:4833840..4840039,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10215582	1.00[ASN][1000 genomes]
rs11764272	0.90[ASN][1000 genomes]
rs11764275	0.90[ASN][1000 genomes]
rs11768079	0.90[ASN][1000 genomes]
rs11769768	1.00[ASN][1000 genomes]
rs11772411	0.90[ASN][1000 genomes]
rs12701943	0.90[ASN][1000 genomes]
rs1553961	0.90[ASN][1000 genomes]
rs17135121	0.90[ASN][1000 genomes]
rs17135128	0.90[ASN][1000 genomes]
rs17829969	0.97[ASN][1000 genomes]
rs2880933	0.99[EUR][1000 genomes]
rs3750012	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3750013	0.97[ASN][1000 genomes]
rs3816851	0.97[ASN][1000 genomes]
rs3816853	0.80[ASN][1000 genomes]
rs3816854	0.81[ASN][1000 genomes]
rs57468476	0.93[ASN][1000 genomes]
rs58207166	0.83[ASN][1000 genomes]
rs59174566	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59374668	0.90[ASN][1000 genomes]
rs59386173	0.86[ASN][1000 genomes]
rs59441267	0.97[ASN][1000 genomes]
rs6963791	0.90[ASN][1000 genomes]
rs6966329	0.90[ASN][1000 genomes]
rs6975325	0.90[EUR][1000 genomes]
rs73671922	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs749404	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801122	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7803727	0.91[EUR][1000 genomes];0.97[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:67 , 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	chr7:4828800-4835800	Weak transcription	Fetal Lung	lung
3	chr7:4831800-4836200	Weak transcription	Liver	Liver
4	chr7:4831800-4839400	Weak transcription	HMEC	breast
5	chr7:4832000-4837000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:4832200-4847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:4832400-4838000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:4832400-4857600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:4832400-4859800	Weak transcription	Right Atrium	heart
10	chr7:4832600-4835400	Weak transcription	Fetal Kidney	kidney
11	chr7:4832600-4835600	Weak transcription	NHDF-Ad	bronchial
12	chr7:4832600-4838000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:4832600-4839800	Weak transcription	Gastric	stomach
14	chr7:4832800-4836400	Weak transcription	NHLF	lung
15	chr7:4832800-4836600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:4832800-4837800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:4832800-4837800	Weak transcription	Ovary	ovary
18	chr7:4832800-4837800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:4832800-4838000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:4832800-4838000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:4832800-4838000	Weak transcription	Brain Anterior Caudate	brain
22	chr7:4832800-4838000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:4832800-4838000	Weak transcription	Brain Substantia Nigra	brain
24	chr7:4832800-4838000	Weak transcription	Fetal Intestine Small	intestine
25	chr7:4832800-4838000	Weak transcription	Left Ventricle	heart
26	chr7:4832800-4838000	Weak transcription	Psoas Muscle	Psoas
27	chr7:4832800-4838000	Weak transcription	A549	lung
28	chr7:4832800-4838000	Weak transcription	HepG2	liver
29	chr7:4832800-4838800	Weak transcription	Fetal Brain Female	brain
30	chr7:4832800-4839000	Weak transcription	Thymus	Thymus
31	chr7:4832800-4839200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:4832800-4839600	Weak transcription	Pancreas	Pancrea
33	chr7:4832800-4840600	Weak transcription	Spleen	Spleen
34	chr7:4832800-4843400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:4832800-4847400	Weak transcription	Fetal Brain Male	brain
36	chr7:4832800-4852600	Weak transcription	Brain Germinal Matrix	brain
37	chr7:4833000-4835800	Weak transcription	Fetal Heart	heart
38	chr7:4833000-4835800	Weak transcription	Fetal Intestine Large	intestine
39	chr7:4833000-4836400	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:4833000-4837200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:4833000-4838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:4833000-4838000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:4833000-4839400	Weak transcription	Adipose Nuclei	Adipose
44	chr7:4833000-4840600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:4833000-4843400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:4833000-4844800	Weak transcription	Lung	lung
47	chr7:4833200-4838000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:4833200-4838000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:4833600-4837200	Weak transcription	Right Ventricle	heart
50	chr7:4833800-4835400	Enhancers	Placenta	Placenta

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