Variant report

Variant	rs1676221
Chromosome Location	chr19:42832361-42832362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42828328..42831615-chr19:42831862..42835415,5	K562	blood:
2	chr19:42758717..42760946-chr19:42831370..42833314,2	MCF-7	breast:
3	chr19:42826945..42829807-chr19:42831929..42834664,3	K562	blood:
4	chr19:42589152..42591857-chr19:42830713..42833464,2	K562	blood:
5	chr19:42832108..42834522-chr22:23012818..23015505,2	K562	blood:
6	chr19:42829895..42831615-chr19:42831862..42833707,2	K562	blood:

Variant related genes	Relation type
ENSG00000268643	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000105722	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10410185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs10410198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs10410698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs10412833	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11878620	0.82[CHB][hapmap]
rs11880124	0.82[CHB][hapmap]
rs11883412	0.82[CHB][hapmap]
rs1206009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206028	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1206029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206031	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1206033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1206035	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206041	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206042	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206043	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1209280	0.89[EUR][1000 genomes]
rs1211265	0.89[EUR][1000 genomes]
rs13346991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1613100	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1654623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1676211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1676213	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1676214	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676215	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1676217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1676220	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1676222	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1685565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975684	0.82[CHB][hapmap]
rs2267630	1.00[CHB][hapmap]
rs2302485	0.82[CHB][hapmap]
rs2303652	0.82[CHB][hapmap]
rs2537697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2615614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28537976	0.84[EUR][1000 genomes]
rs28621009	1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34922891	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35557987	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3745231	0.82[CHB][hapmap]
rs3745233	0.82[CHB][hapmap]
rs3810148	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3810151	0.82[CHB][hapmap]
rs4141062	1.00[CHB][hapmap]
rs61995685	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7248379	0.82[CHB][hapmap]
rs7255956	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7260287	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73552881	0.84[EUR][1000 genomes]
rs73552895	0.93[EUR][1000 genomes]
rs741070	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs8182491	0.82[CHB][hapmap]
rs851292	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs851293	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs851294	0.86[EUR][1000 genomes]
rs851296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs851615	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs862228	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs865436	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9636121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
7	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830600-42840200	Weak transcription	Aorta	Aorta
2	chr19:42830800-42832400	Weak transcription	Placenta	Placenta
3	chr19:42830800-42832400	Enhancers	Spleen	Spleen
4	chr19:42830800-42832600	Enhancers	Adipose Nuclei	Adipose
5	chr19:42830800-42832600	Enhancers	Fetal Muscle Trunk	muscle
6	chr19:42830800-42832800	Enhancers	Lung	lung
7	chr19:42830800-42833400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:42830800-42833400	Enhancers	Ovary	ovary
9	chr19:42830800-42833600	Enhancers	Pancreas	Pancrea
10	chr19:42830800-42840000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:42830800-42840200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:42830800-42840400	Weak transcription	Colonic Mucosa	Colon
13	chr19:42830800-42840400	Weak transcription	A549	lung
14	chr19:42830800-42840600	Weak transcription	Primary B cells from cord blood	blood
15	chr19:42830800-42841000	Weak transcription	HSMMtube	muscle
16	chr19:42830800-42851200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:42830800-42856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:42830800-42867200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:42830800-42867600	Weak transcription	Fetal Kidney	kidney
20	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
21	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:42831000-42832600	Enhancers	Left Ventricle	heart
23	chr19:42831000-42832600	Enhancers	Rectal Smooth Muscle	rectum
24	chr19:42831000-42832800	Enhancers	Psoas Muscle	Psoas
25	chr19:42831000-42833400	Enhancers	Fetal Intestine Large	intestine
26	chr19:42831000-42839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:42831000-42840000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:42831000-42840400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:42831000-42840400	Weak transcription	Osteobl	bone
30	chr19:42831000-42843600	Weak transcription	Right Atrium	heart
31	chr19:42831000-42856200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:42831000-42860600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr19:42831000-42874400	Weak transcription	HSMM	muscle
34	chr19:42831200-42832400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:42831200-42832600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:42831200-42832600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:42831200-42832600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:42831200-42832600	Enhancers	Brain Anterior Caudate	brain
39	chr19:42831200-42832800	Enhancers	Fetal Intestine Small	intestine
40	chr19:42831200-42833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:42831200-42833200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:42831200-42833800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:42831200-42834400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:42831200-42834400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:42831200-42834400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:42831200-42835000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr19:42831200-42838000	Weak transcription	Esophagus	oesophagus
48	chr19:42831200-42838600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr19:42831200-42839200	Weak transcription	Thymus	Thymus
50	chr19:42831200-42839800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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