Variant report

Variant	rs10420738
Chromosome Location	chr19:51876622-51876623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr19:51875758-51876802	GM12878	blood:	n/a	n/a
2	RUNX3	chr19:51875527-51876757	GM12878	blood:	n/a	chr19:51876107-51876124
3	ELF1	chr19:51874941-51876693	GM12878	blood:	n/a	n/a
4	RUNX3	chr19:51875274-51876634	GM12878	blood:	n/a	chr19:51876107-51876124
5	RCOR1	chr19:51875806-51876677	GM12878	blood:	n/a	n/a
6	PML	chr19:51875654-51876685	GM12878	blood:	n/a	n/a
7	SPI1	chr19:51875884-51876637	GM12878	blood:	n/a	chr19:51876351-51876358 chr19:51876078-51876091
8	SPI1	chr19:51875767-51876668	GM12878	blood:	n/a	chr19:51876351-51876358 chr19:51876078-51876091
9	SPI1	chr19:51875887-51876656	HL-60	blood:	n/a	chr19:51876351-51876358 chr19:51876078-51876091
10	MTA3	chr19:51875002-51876750	GM12878	blood:	n/a	n/a
11	PBX3	chr19:51876498-51876643	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51876015..51877655-chr19:51882172..51883777,2	MCF-7	breast:

Variant related genes	Relation type
NKG7	TF binding region
CLDND2	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10418894	1.00[ASN][1000 genomes]
rs10419337	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109405	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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
3	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv912294	chr19:51844978-51878841	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51870000-51876800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
2	chr19:51872000-51897000	Weak transcription	Right Atrium	heart
3	chr19:51873600-51876800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr19:51873600-51877000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:51873600-51880000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:51874000-51877000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:51874200-51877000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:51874600-51877000	Enhancers	Spleen	Spleen
9	chr19:51875000-51877000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:51875000-51877000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr19:51875200-51876800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr19:51875600-51876800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr19:51875800-51876800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr19:51875800-51877600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:51875800-51878800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:51875800-51881200	Enhancers	Fetal Thymus	thymus
17	chr19:51876000-51877000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:51876000-51877800	Enhancers	Primary T cells from cord blood	blood
19	chr19:51876200-51878600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:51876200-51878800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr19:51876200-51879200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr19:51876200-51879600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:51876200-51880400	Enhancers	Primary hematopoietic stem cells	blood
24	chr19:51876400-51877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:51876400-51878800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:51876400-51879600	Enhancers	GM12878-XiMat	blood
27	chr19:51876600-51877000	Enhancers	Dnd41	blood
28	chr19:51876600-51877200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr19:51876600-51878600	Weak transcription	Primary B cells from cord blood	blood
30	chr19:51876600-51878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:51876600-51879000	Weak transcription	Thymus	Thymus
32	chr19:51876600-51879400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr19:51876600-51880000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr19:51876600-51883600	Weak transcription	K562	blood

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