Variant report

Variant	rs10420514
Chromosome Location	chr19:40557084-40557085
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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10403646	1.00[AFR][1000 genomes]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423298	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11882318	0.90[AMR][1000 genomes]
rs11883159	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13382054	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[EUR][1000 genomes]
rs28832070	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs337795	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57342065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57554707	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs7245930	1.00[EUR][1000 genomes]
rs7250945	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7257627	1.00[EUR][1000 genomes]
rs7258111	1.00[EUR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	1.00[EUR][1000 genomes]
rs73930679	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	1.00[AFR][1000 genomes];1.00[EUR][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:95 , 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	chr19:40549200-40557800	ZNF genes & repeats	Liver	Liver
3	chr19:40550000-40561200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:40550600-40560600	Weak transcription	Stomach Mucosa	stomach
5	chr19:40552800-40558800	Strong transcription	Primary B cells from cord blood	blood
6	chr19:40552800-40561200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:40553000-40560600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:40553000-40560600	Weak transcription	NHEK	skin
9	chr19:40553000-40561400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:40553200-40560800	Weak transcription	Hela-S3	cervix
11	chr19:40553200-40561200	Weak transcription	HMEC	breast
12	chr19:40553400-40560800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr19:40553600-40560600	Weak transcription	NHLF	lung
14	chr19:40554400-40561200	Weak transcription	HUVEC	blood vessel
15	chr19:40554600-40559000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:40554600-40560600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:40554800-40561000	Weak transcription	Placenta	Placenta
18	chr19:40554800-40561200	Weak transcription	HSMM	muscle
19	chr19:40554800-40561400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:40555000-40558000	Weak transcription	HepG2	liver
21	chr19:40555000-40559800	Weak transcription	Psoas Muscle	Psoas
22	chr19:40555000-40560400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:40555000-40560600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr19:40555000-40560600	Weak transcription	Brain Substantia Nigra	brain
25	chr19:40555000-40560600	Weak transcription	NHDF-Ad	bronchial
26	chr19:40555000-40560600	Weak transcription	Osteobl	bone
27	chr19:40555200-40560600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:40555600-40560400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:40555600-40560400	Weak transcription	Small Intestine	intestine
30	chr19:40555600-40560600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:40555600-40560600	Weak transcription	Colonic Mucosa	Colon
32	chr19:40555800-40558000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:40555800-40558400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:40555800-40559800	Weak transcription	Thymus	Thymus
35	chr19:40555800-40560400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:40555800-40560600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:40555800-40560600	Weak transcription	Brain Angular Gyrus	brain
38	chr19:40555800-40560600	Weak transcription	Fetal Heart	heart
39	chr19:40555800-40560800	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:40556000-40561000	Weak transcription	HSMMtube	muscle
41	chr19:40556400-40560800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:40556600-40558800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:40556600-40560200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:40556600-40560400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:40556600-40560400	Weak transcription	Brain Anterior Caudate	brain
46	chr19:40556600-40560600	Weak transcription	Spleen	Spleen
47	chr19:40556600-40561000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:40556800-40557600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr19:40556800-40558600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:40556800-40558600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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