Variant report

Variant	rs3213293
Chromosome Location	chr19:44070337-44070338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44068557..44070681-chr19:44078939..44080938,2	K562	blood:
2	chr19:44064879..44067327-chr19:44069026..44071332,2	K562	blood:

Variant related genes	Relation type
ENSG00000073050	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2307187	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682588	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2854497	1.00[CHB][hapmap]
rs2854510	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3213251	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213289	1.00[ASN][1000 genomes]
rs3213316	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs3213321	1.00[CHB][hapmap];0.88[AMR][1000 genomes]
rs3213322	1.00[CHB][hapmap]
rs346049	1.00[CHB][hapmap]
rs60175550	0.88[AMR][1000 genomes]
rs73554667	0.86[AFR][1000 genomes]
rs73554679	0.86[AFR][1000 genomes]
rs73556510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73556512	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73556542	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104645	1.00[CHB][hapmap]
rs8110767	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1067126	chr19:43260649-44075194	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv544015	chr19:43260649-44075194	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1057657	chr19:43302497-44076564	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv1059631	chr19:43316978-44075054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv544030	chr19:43316978-44075054	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1063149	chr19:44059081-44087583	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44039200-44078600	Weak transcription	Hela-S3	cervix
2	chr19:44043800-44074000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:44048400-44078800	Weak transcription	Small Intestine	intestine
4	chr19:44057600-44071200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:44057800-44078800	Weak transcription	HSMMtube	muscle
6	chr19:44058400-44071400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44058600-44078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:44059000-44076000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:44059200-44078800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:44059800-44078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:44062600-44076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:44063400-44076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:44065200-44078600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr19:44065400-44078600	Weak transcription	Ovary	ovary
15	chr19:44065400-44078800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:44065400-44078800	Weak transcription	Aorta	Aorta
17	chr19:44065800-44078600	Weak transcription	HSMM	muscle
18	chr19:44066000-44078600	Weak transcription	K562	blood
19	chr19:44066200-44078800	Weak transcription	Pancreas	Pancrea
20	chr19:44066600-44076200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:44066600-44078800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:44066800-44074000	Weak transcription	Stomach Mucosa	stomach
23	chr19:44067000-44078600	Weak transcription	Gastric	stomach
24	chr19:44067200-44075600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:44067200-44076000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:44067200-44076200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:44067200-44078600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:44067200-44078600	Weak transcription	Fetal Kidney	kidney
29	chr19:44067400-44074000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:44067400-44074000	Weak transcription	NHEK	skin
31	chr19:44067400-44074800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:44067400-44075000	Weak transcription	Placenta	Placenta
33	chr19:44067400-44076000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:44067400-44076000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:44067400-44076200	Weak transcription	Brain Anterior Caudate	brain
36	chr19:44067400-44078600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:44067400-44078600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:44067400-44078600	Weak transcription	Liver	Liver
39	chr19:44067400-44078600	Weak transcription	Brain Substantia Nigra	brain
40	chr19:44067400-44078600	Weak transcription	Left Ventricle	heart
41	chr19:44067400-44078600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:44067400-44078600	Weak transcription	HUVEC	blood vessel
43	chr19:44067400-44078800	Weak transcription	Fetal Heart	heart
44	chr19:44067400-44078800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:44067400-44078800	Weak transcription	Right Ventricle	heart
46	chr19:44067600-44078800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:44067800-44072600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:44067800-44074800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:44067800-44075600	Weak transcription	NHLF	lung
50	chr19:44067800-44077600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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