Variant report

Variant	rs11883342
Chromosome Location	chr19:40558132-40558133
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	chr19:40556758..40560980-chr19:40561026..40565177,5	K562	blood:
2	chr19:40556758..40558770-chr19:40561026..40564017,2	K562	blood:

Variant related genes	Relation type
ENSG00000128000	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11878670	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11879271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes]
rs11880843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11881551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes]
rs16974069	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55673424	0.86[ASN][1000 genomes]
rs55718963	0.86[ASN][1000 genomes]
rs55838062	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55873814	0.86[ASN][1000 genomes]
rs56040936	0.84[AFR][1000 genomes]
rs7250934	0.86[ASN][1000 genomes]
rs73040535	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040537	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73040542	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73040556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040573	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040578	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73052616	0.84[AFR][1000 genomes]
rs73052630	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40549000-40559800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:40550000-40561200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:40550600-40560600	Weak transcription	Stomach Mucosa	stomach
4	chr19:40552800-40558800	Strong transcription	Primary B cells from cord blood	blood
5	chr19:40552800-40561200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:40553000-40560600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:40553000-40560600	Weak transcription	NHEK	skin
8	chr19:40553000-40561400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:40553200-40560800	Weak transcription	Hela-S3	cervix
10	chr19:40553200-40561200	Weak transcription	HMEC	breast
11	chr19:40553400-40560800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:40553600-40560600	Weak transcription	NHLF	lung
13	chr19:40554400-40561200	Weak transcription	HUVEC	blood vessel
14	chr19:40554600-40559000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:40554600-40560600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:40554800-40561000	Weak transcription	Placenta	Placenta
17	chr19:40554800-40561200	Weak transcription	HSMM	muscle
18	chr19:40554800-40561400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:40555000-40559800	Weak transcription	Psoas Muscle	Psoas
20	chr19:40555000-40560400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:40555000-40560600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:40555000-40560600	Weak transcription	Brain Substantia Nigra	brain
23	chr19:40555000-40560600	Weak transcription	NHDF-Ad	bronchial
24	chr19:40555000-40560600	Weak transcription	Osteobl	bone
25	chr19:40555200-40560600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:40555600-40560400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:40555600-40560400	Weak transcription	Small Intestine	intestine
28	chr19:40555600-40560600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:40555600-40560600	Weak transcription	Colonic Mucosa	Colon
30	chr19:40555800-40558400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:40555800-40559800	Weak transcription	Thymus	Thymus
32	chr19:40555800-40560400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:40555800-40560600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:40555800-40560600	Weak transcription	Brain Angular Gyrus	brain
35	chr19:40555800-40560600	Weak transcription	Fetal Heart	heart
36	chr19:40555800-40560800	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:40556000-40561000	Weak transcription	HSMMtube	muscle
38	chr19:40556400-40560800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:40556600-40558800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:40556600-40560200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:40556600-40560400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:40556600-40560400	Weak transcription	Brain Anterior Caudate	brain
43	chr19:40556600-40560600	Weak transcription	Spleen	Spleen
44	chr19:40556600-40561000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:40556800-40558600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:40556800-40558600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:40556800-40558600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:40556800-40559000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:40556800-40559200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr19:40556800-40559200	Weak transcription	Dnd41	blood

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