Variant report

Variant	rs57550607
Chromosome Location	chr19:36645080-36645081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36644836-36645153	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:36645017-36645241	IMR90	lung:	n/a	n/a
3	POLR2A	chr19:36644415-36645577	PANC-1	pancreas:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36643816..36646322-chr19:36651862..36654604,2	K562	blood:
2	chr19:36635447..36638773-chr19:36641889..36645478,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPNS1-1	chr19:36644712-36645101	NONHSAT065964

No data

Variant related genes	Relation type
COX7A1	TF binding region
ENSG00000126247	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12608775	1.00[ASN][1000 genomes]
rs2285598	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv579425	chr19:36643695-36685753	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36632800-36645600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:36633000-36645600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:36633000-36645600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:36633000-36645600	Strong transcription	A549	lung
5	chr19:36636000-36650400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:36638400-36661600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:36640600-36652000	Weak transcription	K562	blood
8	chr19:36641400-36652200	Weak transcription	GM12878-XiMat	blood
9	chr19:36641800-36650600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:36641800-36652000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:36641800-36652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:36642000-36660000	Weak transcription	Stomach Mucosa	stomach
13	chr19:36642200-36646400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:36642200-36650400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:36642200-36654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:36642200-36660000	Weak transcription	Brain Substantia Nigra	brain
17	chr19:36642200-36660000	Weak transcription	Hela-S3	cervix
18	chr19:36642200-36673400	Weak transcription	Primary B cells from cord blood	blood
19	chr19:36642400-36645800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:36642400-36652000	Weak transcription	Primary T cells from cord blood	blood
21	chr19:36642400-36652000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:36642400-36661400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr19:36642400-36661400	Weak transcription	Dnd41	blood
24	chr19:36642600-36652600	Weak transcription	Gastric	stomach
25	chr19:36642600-36660000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:36642600-36660000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:36642800-36661600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:36643000-36650400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:36643000-36652400	Weak transcription	Pancreas	Pancrea
30	chr19:36643000-36661400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr19:36643000-36661400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:36643000-36661400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:36643000-36661600	Weak transcription	Liver	Liver
34	chr19:36643000-36661600	Weak transcription	HepG2	liver
35	chr19:36643000-36673800	Weak transcription	NH-A	brain
36	chr19:36643200-36652400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:36643400-36645600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:36643600-36645600	Strong transcription	HMEC	breast
39	chr19:36643600-36646000	Enhancers	Placenta	Placenta
40	chr19:36643600-36652000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr19:36643800-36646000	Weak transcription	Lung	lung
42	chr19:36643800-36646200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:36643800-36646200	Strong transcription	Fetal Intestine Small	intestine
44	chr19:36643800-36648400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr19:36643800-36651600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:36643800-36652000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr19:36643800-36652600	Weak transcription	Brain Anterior Caudate	brain
48	chr19:36643800-36652600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:36643800-36661400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr19:36643800-36661400	Weak transcription	Brain Inferior Temporal Lobe	brain

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