Variant report

Variant	rs10419684
Chromosome Location	chr19:19304555-19304556
allele	A/G
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:14)
LncRNA
region (count:0)
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	chr19:19302043-19304646	K562	blood:	n/a	n/a
2	POLR2A	chr19:19301870-19304560	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19279506..19282646-chr19:19302669..19304636,3	MCF-7	breast:
2	chr19:19303809..19306527-chr19:19495529..19497596,2	K562	blood:
3	chr19:19300955..19305521-chr19:19311679..19315747,10	MCF-7	breast:
4	chr19:19301203..19304689-chr19:19429627..19432561,5	MCF-7	breast:
5	chr19:19302763..19305800-chr19:19307599..19310833,3	MCF-7	breast:
6	chr19:19304004..19306841-chr19:19429725..19433437,3	MCF-7	breast:
7	chr19:19294693..19300778-chr19:19301483..19306941,9	K562	blood:
8	chr19:19286456..19293705-chr19:19298673..19304955,13	K562	blood:
9	chr19:19300744..19305499-chr19:19311426..19319217,10	K562	blood:
10	chr19:19302936..19305152-chr19:19382979..19386540,3	MCF-7	breast:
11	chr19:19301788..19305469-chr19:19308325..19310505,4	K562	blood:
12	chr19:19303122..19305309-chr19:19496096..19498095,2	K562	blood:
13	chr19:19299448..19305567-chr19:19306959..19319217,21	K562	blood:
14	chr19:19302224..19305333-chr19:19312708..19315616,6	MCF-7	breast:

No data

Variant related genes	Relation type
RFXANK	TF binding region
MEF2BNB-MEF2B	TF binding region
MEF2BNB	TF binding region
MEF2B	TF binding region
ENSG00000184162	Chromatin interaction
ENSG00000167491	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000267629	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000213996	Chromatin interaction
ENSG00000064490	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1005372	1.00[CHD][hapmap]
rs1064389	1.00[CHD][hapmap]
rs2228601	1.00[CHD][hapmap]
rs2965190	1.00[CHD][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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv933613	chr19:19291456-19312244	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv961283	chr19:19293486-19312277	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19301600-19304600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:19301800-19304600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:19301800-19304600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:19301800-19304600	Active TSS	Psoas Muscle	Psoas
5	chr19:19301800-19304600	Active TSS	GM12878-XiMat	blood
6	chr19:19301800-19305000	Active TSS	A549	lung
7	chr19:19302000-19304600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr19:19302000-19304600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:19302000-19304600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:19302000-19304600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:19302000-19304600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:19302000-19304600	Active TSS	Colon Smooth Muscle	Colon
13	chr19:19302000-19304600	Active TSS	HSMMtube	muscle
14	chr19:19302000-19304600	Active TSS	NH-A	brain
15	chr19:19302000-19304600	Active TSS	NHLF	lung
16	chr19:19302000-19304800	Active TSS	HSMM	muscle
17	chr19:19302200-19304600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:19302200-19304600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:19302200-19304600	Active TSS	Brain Hippocampus Middle	brain
20	chr19:19302200-19304600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:19302200-19304600	Active TSS	Brain Substantia Nigra	brain
22	chr19:19302200-19304600	Active TSS	Left Ventricle	heart
23	chr19:19302200-19304600	Active TSS	Right Atrium	heart
24	chr19:19302200-19304600	Active TSS	NHDF-Ad	bronchial
25	chr19:19302200-19304800	Active TSS	Rectal Smooth Muscle	rectum
26	chr19:19302400-19304600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:19302400-19304600	Active TSS	Primary T cells from cord blood	blood
28	chr19:19302600-19304600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:19302600-19304800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:19303800-19304600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr19:19303800-19304600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:19303800-19304600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr19:19303800-19304800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr19:19303800-19304800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr19:19303800-19304800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:19303800-19304800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr19:19303800-19305200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr19:19304000-19304600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:19304000-19304600	Flanking Active TSS	NHEK	skin
40	chr19:19304000-19305000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:19304000-19305200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr19:19304200-19304600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:19304200-19304600	Flanking Active TSS	Fetal Lung	lung
44	chr19:19304200-19304600	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr19:19304200-19304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:19304200-19304800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:19304200-19304800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr19:19304200-19304800	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr19:19304200-19304800	Enhancers	Pancreas	Pancrea
50	chr19:19304200-19304800	Enhancers	Small Intestine	intestine

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