Variant report

Variant	rs62482174
Chromosome Location	chr7:99833851-99833852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1636977	1.00[AFR][1000 genomes]
rs62482169	1.00[AFR][1000 genomes]
rs62482172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers 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	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	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
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
2	chr7:99809200-99834800	Weak transcription	HSMMtube	muscle
3	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
4	chr7:99811600-99834800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:99812400-99839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:99813800-99838800	Weak transcription	Fetal Brain Male	brain
7	chr7:99813800-99841200	Weak transcription	Left Ventricle	heart
8	chr7:99813800-99846800	Weak transcription	Ovary	ovary
9	chr7:99815400-99834800	Weak transcription	A549	lung
10	chr7:99815400-99834800	Weak transcription	Osteobl	bone
11	chr7:99815600-99835200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:99815600-99844800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:99815800-99839600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:99819400-99834800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:99820400-99834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:99820800-99835200	Weak transcription	HSMM	muscle
17	chr7:99821400-99834800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:99821600-99834800	Weak transcription	Brain Anterior Caudate	brain
19	chr7:99821600-99844000	Weak transcription	Esophagus	oesophagus
20	chr7:99821600-99867800	Weak transcription	Gastric	stomach
21	chr7:99821800-99834600	Weak transcription	Adipose Nuclei	Adipose
22	chr7:99821800-99839800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:99822000-99834800	Weak transcription	Brain Angular Gyrus	brain
24	chr7:99822600-99839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:99822800-99844000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:99823200-99862600	Weak transcription	Spleen	Spleen
27	chr7:99823600-99841400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:99823800-99864200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:99824000-99841200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:99824400-99834800	Weak transcription	Placenta	Placenta
31	chr7:99824600-99835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:99825600-99840200	Weak transcription	K562	blood
33	chr7:99826400-99834000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:99827200-99834800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:99828800-99834800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:99829200-99841000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:99829200-99860600	Weak transcription	Dnd41	blood
38	chr7:99829400-99834600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:99829400-99834600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:99829400-99834600	Weak transcription	Fetal Intestine Large	intestine
41	chr7:99829400-99834800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:99829400-99838800	Weak transcription	Brain Substantia Nigra	brain
43	chr7:99829400-99841000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:99829400-99841000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:99829600-99838000	Weak transcription	HepG2	liver
46	chr7:99829600-99844800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:99829800-99839600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:99831000-99834800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:99831000-99842600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:99831000-99845200	Weak transcription	Right Ventricle	heart

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