Variant report

Variant	rs10425638
Chromosome Location	chr19:40336387-40336388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:40336233..40337167-chr6:26596570..26597367,2	HCT-116	colon:
2	chr19:40330455..40332873-chr19:40336316..40338752,3	MCF-7	breast:
3	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
4	chr14:61447351..61448029-chr19:40336255..40336824,2	Hela-S3	cervix:
5	chr19:40322842..40325581-chr19:40335629..40338491,6	MCF-7	breast:
6	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
7	chr19:40321340..40326326-chr19:40333108..40338214,12	MCF-7	breast:
8	chr19:40336042..40336909-chr20:47895114..47895616,2	Hela-S3	cervix:
9	chr19:39926041..39928299-chr19:40334872..40337810,2	MCF-7	breast:
10	chr19:40021563..40023552-chr19:40334495..40337354,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105202	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000105204	Chromatin interaction
ENSG00000126814	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000139974	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000105193	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12975624	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12975641	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12982808	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12982833	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803298	0.89[ASN][1000 genomes]

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	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40333400-40336600	Enhancers	Spleen	Spleen
2	chr19:40334800-40336400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:40334800-40336400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:40334800-40336400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr19:40334800-40336400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr19:40334800-40336600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr19:40334800-40337200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:40334800-40337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:40335000-40337200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:40335200-40336600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:40335200-40336600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:40335200-40336600	Flanking Active TSS	HUVEC	blood vessel
13	chr19:40335200-40336800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:40335400-40336400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:40335400-40336600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:40335400-40336600	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr19:40335400-40337200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:40335400-40337400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:40335400-40337400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:40335400-40337600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr19:40335400-40337600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:40335600-40336400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:40335600-40336400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:40335600-40336400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr19:40335600-40336400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:40335600-40336400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr19:40335600-40336400	Flanking Active TSS	Fetal Brain Female	brain
28	chr19:40335600-40336400	Flanking Active TSS	Fetal Lung	lung
29	chr19:40335600-40336600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr19:40335600-40336600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr19:40335600-40336600	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr19:40335600-40336600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:40335600-40336600	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr19:40335600-40336600	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr19:40335600-40336600	Flanking Active TSS	Fetal Thymus	thymus
36	chr19:40335600-40336600	Flanking Active TSS	Pancreas	Pancrea
37	chr19:40335600-40336600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:40335600-40336600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr19:40335600-40336600	Flanking Active TSS	Osteobl	bone
40	chr19:40335600-40336800	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr19:40335600-40336800	Flanking Active TSS	Thymus	Thymus
42	chr19:40335600-40337000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:40335600-40337400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr19:40335600-40337600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr19:40335600-40337600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr19:40335800-40336400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr19:40335800-40336400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:40335800-40336400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr19:40335800-40336400	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr19:40335800-40336400	Flanking Active TSS	Fetal Muscle Leg	muscle

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