Variant report

Variant	rs60602121
Chromosome Location	chr19:44014599-44014600
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44008750..44013083-chr19:44013430..44017260,4	K562	blood:

Variant related genes	Relation type
ENSG00000176531	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3213345	0.93[AFR][1000 genomes]
rs3213390	0.93[AFR][1000 genomes]
rs58434293	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1058162	chr19:43846238-44055058	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44009000-44023600	Weak transcription	Stomach Mucosa	stomach
2	chr19:44009200-44029200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:44009200-44029600	Weak transcription	Psoas Muscle	Psoas
4	chr19:44009400-44014800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:44009400-44015000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:44009400-44015000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:44009400-44015000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:44009400-44017000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:44009400-44018200	Weak transcription	Fetal Brain Male	brain
10	chr19:44009400-44018200	Weak transcription	Pancreas	Pancrea
11	chr19:44009400-44018400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:44009400-44018400	Weak transcription	Right Ventricle	heart
13	chr19:44009400-44020200	Weak transcription	Right Atrium	heart
14	chr19:44009400-44022000	Weak transcription	Primary B cells from cord blood	blood
15	chr19:44009400-44023600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:44009600-44014800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr19:44009600-44016600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:44009600-44023400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:44009600-44023600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:44009600-44023600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:44009800-44015800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr19:44009800-44016000	Strong transcription	Fetal Stomach	stomach
23	chr19:44009800-44019800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:44009800-44021600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:44010000-44014800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:44010000-44015800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:44010000-44015800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:44010000-44015800	Strong transcription	Liver	Liver
29	chr19:44010000-44016000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr19:44010000-44021800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:44010200-44014600	Strong transcription	NHLF	lung
32	chr19:44010200-44016000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr19:44010200-44016000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:44010200-44016000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:44010200-44016000	Strong transcription	Fetal Muscle Leg	muscle
36	chr19:44010200-44016000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:44010200-44021600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr19:44010200-44023400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr19:44010400-44018600	Weak transcription	HUVEC	blood vessel
40	chr19:44010400-44023000	Weak transcription	Hela-S3	cervix
41	chr19:44010400-44023400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr19:44010400-44023600	Weak transcription	K562	blood
43	chr19:44010800-44015800	Strong transcription	Thymus	Thymus
44	chr19:44011000-44015800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:44011200-44029400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr19:44011600-44015800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:44011800-44017800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:44012000-44014600	Strong transcription	NHDF-Ad	bronchial
49	chr19:44012000-44015000	Strong transcription	HSMMtube	muscle
50	chr19:44012000-44015200	Strong transcription	Gastric	stomach

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