Variant report

Variant	rs12610116
Chromosome Location	chr19:42856321-42856322
allele	A/C
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	POLR2A	chr19:42856289-42857417	H1-neurons	neurons:	n/a	n/a
2	REST	chr19:42856142-42857558	H1-neurons	neurons:	n/a	chr19:42856934-42856943

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42853692..42856460-chr19:42858026..42859933,2	K562	blood:

Variant related genes	Relation type
MEGF8	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12978003	1.00[LWK][hapmap]
rs2304211	1.00[LWK][hapmap]
rs28364793	1.00[LWK][hapmap]
rs34343924	1.00[LWK][hapmap]
rs7254227	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats 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
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:42830800-42867200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:42830800-42867600	Weak transcription	Fetal Kidney	kidney
4	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
5	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr19:42831000-42860600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr19:42831000-42874400	Weak transcription	HSMM	muscle
8	chr19:42831200-42856600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:42831200-42856800	Weak transcription	Fetal Thymus	thymus
10	chr19:42831400-42867400	Weak transcription	Fetal Heart	heart
11	chr19:42831400-42867400	Weak transcription	NHEK	skin
12	chr19:42831600-42856400	Weak transcription	HMEC	breast
13	chr19:42831600-42856600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:42831600-42861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr19:42831800-42873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:42831800-42874800	Weak transcription	K562	blood
18	chr19:42833400-42867400	Weak transcription	GM12878-XiMat	blood
19	chr19:42835400-42867400	Strong transcription	Fetal Stomach	stomach
20	chr19:42836600-42861000	Weak transcription	Psoas Muscle	Psoas
21	chr19:42839800-42866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:42841000-42858200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:42841000-42867600	Weak transcription	Osteobl	bone
24	chr19:42841200-42858400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:42841200-42859600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:42841400-42859800	Weak transcription	NHLF	lung
27	chr19:42841400-42861000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr19:42841400-42865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:42841600-42857400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:42841600-42860200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:42841600-42860400	Weak transcription	A549	lung
32	chr19:42841600-42867800	Weak transcription	HepG2	liver
33	chr19:42841800-42860600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr19:42843400-42867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:42844000-42861800	Strong transcription	Fetal Intestine Small	intestine
36	chr19:42844000-42867200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:42844800-42877400	Weak transcription	Stomach Mucosa	stomach
38	chr19:42846800-42858400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:42847200-42856800	Weak transcription	HSMMtube	muscle
40	chr19:42849000-42856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:42849400-42856800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr19:42849800-42858600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:42849800-42867400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:42850000-42856800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:42850000-42857600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:42850600-42859000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:42851000-42863600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:42851600-42860400	Weak transcription	Primary B cells from cord blood	blood
49	chr19:42851600-42862000	Strong transcription	Fetal Intestine Large	intestine
50	chr19:42852000-42862800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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