Variant report

Variant	rs73419422
Chromosome Location	chr6:37833683-37833684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37785357..37787655-chr6:37832956..37835943,2	K562	blood:
2	chr6:37831095..37834657-chr6:37839870..37842931,3	MCF-7	breast:
3	chr6:37827459..37830301-chr6:37832209..37835878,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156639	Chromatin interaction
ENSG00000225945	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1041037	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750950	0.81[EUR][1000 genomes]
rs11751706	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752567	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752623	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752650	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752692	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752863	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11753118	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753122	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753267	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753388	1.00[ASN][1000 genomes]
rs11754247	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11754248	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754590	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754980	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755559	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755894	1.00[ASN][1000 genomes]
rs11756030	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757359	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758540	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759205	1.00[ASN][1000 genomes]
rs11759475	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11759486	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759574	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759721	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12661480	0.81[EUR][1000 genomes]
rs35142414	1.00[ASN][1000 genomes]
rs55707043	1.00[ASN][1000 genomes]
rs55743233	1.00[ASN][1000 genomes]
rs55786703	0.81[EUR][1000 genomes]
rs55811006	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55825770	1.00[ASN][1000 genomes]
rs55836194	1.00[ASN][1000 genomes]
rs55837436	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55990078	1.00[ASN][1000 genomes]
rs56073681	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56106114	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159928	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56308246	1.00[ASN][1000 genomes]
rs56366053	1.00[ASN][1000 genomes]
rs56413211	1.00[ASN][1000 genomes]
rs57040650	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57180729	1.00[ASN][1000 genomes]
rs57269218	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57591988	0.87[EUR][1000 genomes]
rs59450336	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59996041	0.84[EUR][1000 genomes]
rs73417491	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417502	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417963	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73417971	1.00[ASN][1000 genomes]
rs73417972	1.00[ASN][1000 genomes]
rs73417996	1.00[ASN][1000 genomes]
rs73417997	1.00[ASN][1000 genomes]
rs73419414	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419417	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419418	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419447	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419451	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419457	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419461	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419465	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419475	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419487	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419907	1.00[ASN][1000 genomes]
rs73419916	1.00[ASN][1000 genomes]
rs73419919	1.00[ASN][1000 genomes]
rs73419938	1.00[ASN][1000 genomes]
rs73419941	1.00[ASN][1000 genomes]
rs73419944	1.00[ASN][1000 genomes]
rs73419945	1.00[ASN][1000 genomes]
rs73419946	1.00[ASN][1000 genomes]
rs73419947	1.00[ASN][1000 genomes]
rs73421427	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421433	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421436	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73421439	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73421444	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421455	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421464	1.00[ASN][1000 genomes]
rs73421467	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421473	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421477	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421479	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421483	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752110	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1017051	chr6:37789341-38084719	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv538203	chr6:37789341-38084719	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1018711	chr6:37813397-37981590	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1016375	chr6:37816863-37865655	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv538204	chr6:37816863-37865655	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020625	chr6:37833591-38155622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37800200-37836200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:37802600-37834400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:37808000-37839000	Weak transcription	Fetal Stomach	stomach
4	chr6:37812600-37836000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:37813600-37845200	Weak transcription	K562	blood
6	chr6:37814000-37835400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:37818000-37833800	Weak transcription	NHLF	lung
8	chr6:37818400-37836000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:37820000-37834600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:37820000-37835400	Weak transcription	Fetal Heart	heart
11	chr6:37820000-37850200	Weak transcription	Fetal Kidney	kidney
12	chr6:37820400-37836000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:37824000-37842000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:37824400-37836200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:37826200-37834400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:37826200-37834600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:37826400-37834600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:37826400-37835000	Weak transcription	HUVEC	blood vessel
19	chr6:37826800-37836200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:37827200-37834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:37827600-37834400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:37827600-37834400	Weak transcription	Stomach Mucosa	stomach
23	chr6:37828400-37834400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:37828600-37835400	Weak transcription	Brain Germinal Matrix	brain
25	chr6:37828800-37835000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:37829000-37837800	Weak transcription	Dnd41	blood
27	chr6:37829200-37834600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:37830600-37834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:37830600-37834600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:37831000-37833800	Weak transcription	Lung	lung
31	chr6:37831000-37834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:37831000-37834600	Weak transcription	Ovary	ovary
33	chr6:37831000-37836000	Weak transcription	Hela-S3	cervix
34	chr6:37831000-37836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:37831000-37846000	Weak transcription	Esophagus	oesophagus
36	chr6:37831200-37834400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:37831200-37837000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:37831200-37839600	Weak transcription	Fetal Lung	lung
39	chr6:37831400-37834600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:37831400-37834600	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:37831400-37836000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:37831600-37834600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:37831600-37836600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:37831800-37833800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:37831800-37834000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:37831800-37834400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:37831800-37834400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:37831800-37834400	Weak transcription	NHDF-Ad	bronchial
49	chr6:37831800-37834800	Weak transcription	Liver	Liver
50	chr6:37831800-37835400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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