Variant report

Variant	rs1996427
Chromosome Location	chr5:37667900-37667901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37659630..37663695-chr5:37665450..37669812,5	K562	blood:
2	chr5:37658934..37661849-chr5:37667178..37669216,3	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10062316	0.83[AMR][1000 genomes]
rs10473055	0.80[AMR][1000 genomes]
rs10805627	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10941358	0.94[ASN][1000 genomes]
rs10941359	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11739400	0.99[ASN][1000 genomes]
rs11740897	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11742904	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11745980	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11747548	0.98[ASN][1000 genomes]
rs11747900	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749563	0.87[ASN][1000 genomes]
rs11750837	0.95[ASN][1000 genomes]
rs11750840	0.95[ASN][1000 genomes]
rs12189078	0.91[ASN][1000 genomes]
rs12332088	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12516955	0.98[ASN][1000 genomes]
rs12520944	0.99[ASN][1000 genomes]
rs12521063	0.99[ASN][1000 genomes]
rs1356433	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1400854	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1517786	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1589119	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2176479	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4242251	0.88[ASN][1000 genomes]
rs4257799	0.87[ASN][1000 genomes]
rs4343860	0.94[ASN][1000 genomes]
rs4357062	0.83[AMR][1000 genomes]
rs4371784	0.95[ASN][1000 genomes]
rs4451075	0.91[ASN][1000 genomes]
rs4482927	0.94[ASN][1000 genomes]
rs4516881	0.94[ASN][1000 genomes]
rs4516882	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4541680	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4582305	0.85[ASN][1000 genomes]
rs4594879	0.91[ASN][1000 genomes]
rs4608942	0.95[ASN][1000 genomes]
rs4618454	0.94[ASN][1000 genomes]
rs4869541	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4869543	0.94[ASN][1000 genomes]
rs55708822	0.95[ASN][1000 genomes]
rs55732996	0.96[ASN][1000 genomes]
rs55742744	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55849485	0.87[ASN][1000 genomes]
rs56007806	0.99[ASN][1000 genomes]
rs56051431	0.95[ASN][1000 genomes]
rs56051756	0.95[ASN][1000 genomes]
rs56100322	0.96[ASN][1000 genomes]
rs56234447	0.81[AMR][1000 genomes]
rs56412589	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56832651	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59378089	0.93[ASN][1000 genomes]
rs59409868	1.00[ASN][1000 genomes]
rs59829323	0.95[ASN][1000 genomes]
rs60589722	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61492379	0.91[ASN][1000 genomes]
rs62360907	0.90[ASN][1000 genomes]
rs62360910	0.95[ASN][1000 genomes]
rs6451329	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6451330	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6451331	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6451333	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6451337	0.95[ASN][1000 genomes]
rs6451339	0.94[ASN][1000 genomes]
rs6863936	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6864924	0.89[ASN][1000 genomes]
rs6868428	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6884551	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6884569	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6885057	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6885329	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6887215	0.99[ASN][1000 genomes]
rs6887613	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72743184	0.88[ASN][1000 genomes]
rs7702644	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7703775	0.87[ASN][1000 genomes]
rs7713017	0.83[AMR][1000 genomes]
rs7715482	0.83[AMR][1000 genomes]
rs7725465	0.99[ASN][1000 genomes]
rs7727807	0.80[AMR][1000 genomes]
rs9292656	0.83[AMR][1000 genomes]
rs9292662	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers 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	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37654600-37671800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:37656600-37671600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:37659000-37668000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:37659000-37668000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:37659000-37668600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:37662600-37668200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:37662800-37671800	Weak transcription	Small Intestine	intestine
8	chr5:37664000-37668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:37664000-37668600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:37664000-37671800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:37664400-37668000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:37664400-37668400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:37664600-37668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:37665000-37668600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:37665200-37668600	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:37665400-37669400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:37665400-37669800	Enhancers	NHLF	lung
18	chr5:37665600-37669200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:37665800-37671200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:37665800-37672400	Weak transcription	Primary B cells from cord blood	blood
21	chr5:37666000-37669200	Enhancers	Fetal Intestine Large	intestine
22	chr5:37666200-37668000	Weak transcription	NH-A	brain
23	chr5:37666200-37671800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:37666200-37672200	Weak transcription	Right Ventricle	heart
25	chr5:37666400-37668000	Enhancers	A549	lung
26	chr5:37666400-37668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:37666400-37668600	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:37666400-37668800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr5:37666400-37669400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:37666400-37672400	Weak transcription	Left Ventricle	heart
31	chr5:37666600-37669200	Enhancers	Colon Smooth Muscle	Colon
32	chr5:37666600-37671800	Weak transcription	Fetal Heart	heart
33	chr5:37666800-37668000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:37666800-37668000	Weak transcription	HSMM	muscle
35	chr5:37666800-37668600	Weak transcription	Ovary	ovary
36	chr5:37666800-37669600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:37666800-37671400	Weak transcription	Psoas Muscle	Psoas
38	chr5:37666800-37672400	Weak transcription	Adipose Nuclei	Adipose
39	chr5:37667000-37668000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:37667000-37668000	Weak transcription	HUVEC	blood vessel
41	chr5:37667000-37668200	Weak transcription	HSMMtube	muscle
42	chr5:37667000-37668400	Weak transcription	Brain Anterior Caudate	brain
43	chr5:37667000-37668800	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:37667000-37671000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:37667000-37672200	Weak transcription	Lung	lung
46	chr5:37667200-37669600	Weak transcription	Aorta	Aorta
47	chr5:37667400-37668600	Weak transcription	Fetal Stomach	stomach
48	chr5:37667400-37669200	Enhancers	Hela-S3	cervix
49	chr5:37667400-37669400	Enhancers	Osteobl	bone
50	chr5:37667400-37669800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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