Variant report

Variant	rs3760636
Chromosome Location	chr19:40863491-40863492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40853920..40856703-chr19:40862603..40866302,4	K562	blood:
2	chr19:40854582..40856444-chr19:40862603..40865437,3	K562	blood:
3	chr19:40858935..40867508-chr19:40870167..40875772,11	K562	blood:

Variant related genes	Relation type
ENSG00000105223	Chromatin interaction
ENSG00000160392	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11666860	0.87[ASN][1000 genomes]
rs11667768	0.81[ASN][1000 genomes]
rs11667774	0.81[ASN][1000 genomes]
rs11668006	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs11670860	0.85[CHB][hapmap]
rs3730259	0.82[CHB][hapmap]
rs45441197	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4803329	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6508937	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs7247515	0.85[CHB][hapmap]
rs7249819	0.81[ASN][1000 genomes]
rs874269	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv2754051	chr19:40848081-40863842	Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers 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	11 gene(s)	inside rSNPs	diseases
6	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3760636	DMRTC2	cis	parietal	SCAN
rs3760636	C19orf47	cis	lymphoblastoid	seeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40855400-40864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:40855600-40863600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:40855600-40863600	Weak transcription	Fetal Brain Female	brain
4	chr19:40855600-40863800	Weak transcription	Liver	Liver
5	chr19:40855600-40864000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:40855600-40864000	Weak transcription	Spleen	Spleen
7	chr19:40855600-40864000	Weak transcription	NH-A	brain
8	chr19:40855600-40864400	Weak transcription	Placenta	Placenta
9	chr19:40855600-40865200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:40855600-40865200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:40855600-40865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:40855600-40865200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:40855600-40865200	Weak transcription	Thymus	Thymus
14	chr19:40855600-40865200	Weak transcription	A549	lung
15	chr19:40855600-40865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:40855600-40865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:40855600-40865400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:40855600-40865800	Weak transcription	K562	blood
19	chr19:40855600-40866000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:40855600-40866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:40855600-40866200	Weak transcription	Esophagus	oesophagus
22	chr19:40855600-40866600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:40855600-40868800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:40855600-40868800	Weak transcription	HSMM	muscle
25	chr19:40855600-40869000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:40855600-40869000	Weak transcription	Osteobl	bone
27	chr19:40855600-40870600	Weak transcription	Gastric	stomach
28	chr19:40855600-40870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:40855600-40870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr19:40855600-40870800	Weak transcription	Hela-S3	cervix
31	chr19:40855600-40871000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:40855600-40871000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:40855600-40871000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr19:40855600-40871000	Weak transcription	Fetal Brain Male	brain
35	chr19:40855600-40871000	Weak transcription	Fetal Intestine Large	intestine
36	chr19:40855600-40871000	Weak transcription	Right Atrium	heart
37	chr19:40855600-40871000	Weak transcription	NHDF-Ad	bronchial
38	chr19:40855600-40871000	Weak transcription	NHEK	skin
39	chr19:40855600-40871200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:40855600-40871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:40855600-40871200	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:40855600-40871200	Weak transcription	Small Intestine	intestine
43	chr19:40855600-40871400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:40855600-40871400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:40855600-40871400	Weak transcription	Left Ventricle	heart
46	chr19:40855600-40871400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:40855600-40871400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:40855600-40871400	Weak transcription	Right Ventricle	heart
49	chr19:40855600-40871400	Weak transcription	NHLF	lung
50	chr19:40855600-40872400	Weak transcription	Muscle Satellite Cultured Cells	--

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