Variant report

Variant	rs8110675
Chromosome Location	chr19:36257568-36257569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36257450-36257873	K562	blood:	n/a	n/a
2	CTCF	chr19:36257560-36257710	HEK293	kidney:	n/a	n/a
3	POLR2A	chr19:36257512-36257641	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:36257403-36257959	K562	blood:	n/a	n/a
5	POLR2A	chr19:36257561-36257855	K562	blood:	n/a	n/a
6	POLR2A	chr19:36257472-36257825	K562	blood:	n/a	n/a
7	POLR2A	chr19:36257490-36257806	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:36256521-36258159	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr19:36257436-36258003	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr19:36257492-36257665	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36256506..36259052-chr19:36263218..36265757,2	K562	blood:
2	chr19:36249138..36251092-chr19:36255483..36258452,2	MCF-7	breast:
3	chr19:36256506..36259052-chr19:36262546..36265793,4	K562	blood:
4	chr19:36251835..36255945-chr19:36256071..36258525,4	K562	blood:
5	chr19:36255893..36262036-chr19:36262850..36268803,8	MCF-7	breast:

No data

Variant related genes	Relation type
C19orf55	TF binding region
ENSG00000167595	Chromatin interaction
ENSG00000004777	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs120960	1.00[CHB][hapmap];0.91[YRI][hapmap]
rs231236	0.91[YRI][hapmap]
rs34014681	0.86[ASN][1000 genomes]
rs3746281	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs392702	1.00[MEX][hapmap]
rs435605	1.00[MEX][hapmap]
rs446014	1.00[MEX][hapmap]
rs670091	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic 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	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36249800-36265600	Weak transcription	Right Atrium	heart
2	chr19:36249800-36265800	Weak transcription	Fetal Kidney	kidney
3	chr19:36250000-36258400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:36250000-36265600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:36250200-36265400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:36250400-36260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:36250400-36265400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:36250400-36265600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:36250400-36265600	Weak transcription	Psoas Muscle	Psoas
10	chr19:36250400-36265800	Weak transcription	Small Intestine	intestine
11	chr19:36250400-36266000	Weak transcription	Aorta	Aorta
12	chr19:36250600-36258400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:36250600-36258400	Strong transcription	Fetal Intestine Small	intestine
14	chr19:36250600-36265400	Weak transcription	Stomach Mucosa	stomach
15	chr19:36250800-36257600	Strong transcription	Fetal Intestine Large	intestine
16	chr19:36250800-36265400	Weak transcription	Brain Angular Gyrus	brain
17	chr19:36250800-36265600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:36251000-36257600	Strong transcription	Primary T cells from cord blood	blood
19	chr19:36251000-36257600	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:36251000-36258400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:36251000-36258400	Strong transcription	Fetal Stomach	stomach
22	chr19:36251000-36260000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36251000-36260200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:36251000-36260200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:36251000-36263800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:36251000-36265600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:36251000-36265600	Weak transcription	Fetal Brain Male	brain
28	chr19:36251000-36265800	Weak transcription	HUVEC	blood vessel
29	chr19:36251000-36266000	Weak transcription	HSMM	muscle
30	chr19:36251200-36260200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:36251400-36260200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:36251400-36260200	Strong transcription	Dnd41	blood
33	chr19:36251400-36260800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:36251400-36261400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:36251400-36261600	Strong transcription	Thymus	Thymus
36	chr19:36251400-36265600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:36251600-36257600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:36251600-36260000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:36251800-36257600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:36251800-36260000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:36252000-36265600	Weak transcription	NHDF-Ad	bronchial
42	chr19:36252200-36258000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr19:36252400-36260600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:36252600-36260000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:36252800-36259800	Strong transcription	Fetal Brain Female	brain
46	chr19:36252800-36260000	Strong transcription	Lung	lung
47	chr19:36253000-36258200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:36253200-36258400	Weak transcription	Fetal Heart	heart
49	chr19:36253200-36266000	Weak transcription	HSMMtube	muscle
50	chr19:36253400-36262800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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