Variant report

Variant	rs561796835
Chromosome Location	chr19:42400706-42400707
allele	-/CTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42400657-42400713	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr19:42399572-42400749	A549	lung:	n/a	chr19:42400263-42400281 chr19:42400269-42400278

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42400409..42404033-chr19:42410840..42416491,6	K562	blood:
2	chr19:42385849..42388501-chr19:42399623..42401678,2	K562	blood:
3	chr19:42399554..42401550-chr19:42461897..42463730,2	MCF-7	breast:
4	chr19:42399244..42402499-chr19:42406088..42408738,6	MCF-7	breast:
5	chr19:42399993..42402789-chr19:42426992..42429764,2	MCF-7	breast:
6	chr19:42398848..42401100-chr19:42409902..42411983,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPD4-2	chr19:42400176-42400914	NONHSAT066497
2	lnc-LYPD4-2	chr19:42400449-42400876	NONHSAT066498

No data

Variant related genes	Relation type
ARHGEF1	TF binding region
ENSG00000076928	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000268041	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	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
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv3332013	chr19:42400062-42402960	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv14978	chr19:42400342-42401377	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv820680	chr19:42400342-42401377	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3354216	chr19:42400612-42402410	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv579616	chr19:42400635-42401313	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3513160	chr19:42400651-42401087	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv2227579	chr19:42400681-42401069	Genic enhancers Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 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	chr19:42389200-42407200	Weak transcription	Fetal Kidney	kidney
2	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
3	chr19:42389400-42402000	Weak transcription	Psoas Muscle	Psoas
4	chr19:42389400-42406000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:42389400-42411400	Weak transcription	Fetal Brain Male	brain
6	chr19:42389800-42409000	Strong transcription	Fetal Stomach	stomach
7	chr19:42390800-42411200	Weak transcription	Hela-S3	cervix
8	chr19:42391400-42407400	Weak transcription	K562	blood
9	chr19:42391600-42404600	Weak transcription	HSMM	muscle
10	chr19:42392000-42404000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:42392000-42412600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:42392000-42412600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:42392000-42412600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:42392200-42400800	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr19:42392200-42401400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:42392200-42407600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:42392200-42408400	Strong transcription	Liver	Liver
18	chr19:42392200-42412400	Strong transcription	Fetal Muscle Leg	muscle
19	chr19:42392200-42412800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr19:42392400-42401800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:42392400-42407600	Strong transcription	Fetal Intestine Small	intestine
22	chr19:42392400-42410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:42392400-42412400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:42392400-42413200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:42392600-42402200	Strong transcription	Adipose Nuclei	Adipose
26	chr19:42392600-42406200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:42392600-42407400	Strong transcription	Colonic Mucosa	Colon
28	chr19:42392600-42411800	Strong transcription	Placenta	Placenta
29	chr19:42392600-42413600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr19:42392800-42400800	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr19:42392800-42401000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:42392800-42402400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:42392800-42407800	Strong transcription	Fetal Intestine Large	intestine
34	chr19:42393000-42403600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:42393400-42400800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:42393400-42400800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr19:42393400-42404600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr19:42393400-42413600	Strong transcription	Thymus	Thymus
39	chr19:42393800-42401800	Weak transcription	NH-A	brain
40	chr19:42393800-42402200	Genic enhancers	Primary T cells from cord blood	blood
41	chr19:42393800-42404400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr19:42393800-42413000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:42394000-42403400	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr19:42394000-42413000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:42394200-42401000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr19:42394800-42405000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:42395200-42400800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:42395600-42400800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr19:42395600-42401000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:42395600-42412400	Strong transcription	Right Ventricle	heart

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