Variant report

Variant	rs13344123
Chromosome Location	chr19:41817194-41817195
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41799355..41806261-chr19:41812914..41817863,9	MCF-7	breast:
2	chr19:41814451..41817514-chr19:41857748..41860161,3	K562	blood:
3	chr19:41773353..41775268-chr19:41816276..41817843,2	K562	blood:
4	chr19:41768451..41772660-chr19:41814640..41817683,6	MCF-7	breast:
5	chr19:41766963..41771332-chr19:41813075..41817628,7	K562	blood:
6	chr19:41815990..41817853-chr19:41901729..41903326,2	K562	blood:
7	chr19:41813982..41818537-chr19:41824784..41829010,7	MCF-7	breast:
8	chr19:41767589..41772847-chr19:41812402..41817981,15	MCF-7	breast:
9	chr19:41766631..41773289-chr19:41812153..41817614,9	K562	blood:
10	chr19:41814729..41817632-chr19:41858391..41861046,3	K562	blood:
11	chr19:41814514..41817967-chr19:41856512..41859507,4	MCF-7	breast:
12	chr19:41816281..41817801-chr19:41846684..41849641,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255730	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000142039	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000077348	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10411097	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10414801	1.00[ASW][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10419107	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10425263	1.00[YRI][hapmap]
rs13345076	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs60502595	1.00[AFR][1000 genomes]
rs8100690	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911769	chr19:41813676-41845801	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 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	chr19:41814400-41817400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr19:41815200-41817200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:41815200-41817200	Active TSS	Right Ventricle	heart
4	chr19:41815200-41817400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:41815200-41817600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:41815200-41817800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr19:41815400-41817200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:41815400-41817200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:41815400-41817200	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr19:41815400-41817200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:41815400-41817200	Active TSS	Right Atrium	heart
12	chr19:41815400-41817200	Active TSS	GM12878-XiMat	blood
13	chr19:41815400-41817200	Active TSS	HSMMtube	muscle
14	chr19:41815400-41817400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:41815400-41817400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr19:41815400-41817400	Active TSS	Fetal Kidney	kidney
17	chr19:41815400-41817400	Active TSS	NHLF	lung
18	chr19:41815400-41817800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:41815600-41817200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:41815600-41817200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:41815600-41817200	Active TSS	Hela-S3	cervix
22	chr19:41815800-41817200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr19:41816200-41817200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr19:41816400-41817200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr19:41816400-41817200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:41816400-41817200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr19:41816400-41817200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr19:41816400-41817200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr19:41816400-41817200	Flanking Active TSS	Colonic Mucosa	Colon
30	chr19:41816400-41817200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr19:41816400-41817400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:41816400-41817400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr19:41816400-41817400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:41816400-41817400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:41816400-41817600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr19:41816400-41817600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr19:41816400-41818000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr19:41816600-41817200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:41816600-41817200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr19:41816600-41817200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr19:41816600-41817200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr19:41816600-41817200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr19:41816600-41817200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr19:41816600-41817200	Flanking Active TSS	Fetal Stomach	stomach
45	chr19:41816600-41817200	Flanking Active TSS	Fetal Thymus	thymus
46	chr19:41816600-41817200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:41816600-41817200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr19:41816600-41817200	Flanking Active TSS	Thymus	Thymus
49	chr19:41816600-41817200	Flanking Active TSS	HUVEC	blood vessel
50	chr19:41816600-41817400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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