Variant report

Variant	rs430107
Chromosome Location	chr19:44510698-44510699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44506934..44508722-chr19:44508906..44511281,4	K562	blood:
2	chr19:44438985..44440520-chr19:44510451..44513064,2	MCF-7	breast:
3	chr19:44506929..44508722-chr19:44508906..44512991,6	K562	blood:
4	chr19:44510545..44512229-chr19:44575902..44577637,2	MCF-7	breast:
5	chr19:44507222..44510776-chr19:44517439..44520079,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159882	Chromatin interaction
ENSG00000186026	Chromatin interaction
ENSG00000266921	Chromatin interaction
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11667318	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs11672570	0.82[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12327743	1.00[EUR][1000 genomes]
rs16976952	1.00[EUR][1000 genomes]
rs16976959	1.00[EUR][1000 genomes]
rs16978634	1.00[ASW][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35026751	1.00[EUR][1000 genomes]
rs378598	1.00[EUR][1000 genomes]
rs424147	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4599026	1.00[EUR][1000 genomes]
rs57574350	1.00[EUR][1000 genomes]
rs58379185	1.00[EUR][1000 genomes]
rs59955744	1.00[EUR][1000 genomes]
rs61254478	1.00[EUR][1000 genomes]
rs7260087	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567700	1.00[EUR][1000 genomes]
rs73569807	1.00[EUR][1000 genomes]
rs73569826	1.00[EUR][1000 genomes]
rs73569841	1.00[EUR][1000 genomes]
rs8110949	1.00[EUR][1000 genomes]
rs8112679	0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44508000-44510800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr19:44508000-44511000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:44508000-44511600	Weak transcription	Pancreas	Pancrea
4	chr19:44508200-44510800	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:44508200-44510800	Weak transcription	Brain Substantia Nigra	brain
6	chr19:44508200-44510800	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:44508200-44511000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:44508200-44511000	Weak transcription	Aorta	Aorta
9	chr19:44508200-44511000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:44508200-44511000	Weak transcription	Esophagus	oesophagus
11	chr19:44508200-44511000	Weak transcription	Gastric	stomach
12	chr19:44508200-44511000	Weak transcription	Left Ventricle	heart
13	chr19:44508200-44511000	Weak transcription	Ovary	ovary
14	chr19:44508200-44511200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:44508200-44511200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:44508200-44511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:44508200-44511400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:44508200-44511600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:44508200-44511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:44508200-44511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:44508200-44511800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:44508200-44511800	Weak transcription	Stomach Mucosa	stomach
23	chr19:44508200-44512000	Weak transcription	HSMM	muscle
24	chr19:44508200-44512800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:44508400-44510800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:44508400-44510800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:44508400-44510800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:44508400-44510800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:44508400-44510800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:44508400-44510800	Weak transcription	Osteobl	bone
31	chr19:44508400-44511000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:44508400-44511000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr19:44508400-44511000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:44508400-44511000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:44508400-44511000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:44508400-44511000	Weak transcription	Brain Angular Gyrus	brain
37	chr19:44508400-44511000	Weak transcription	Brain Germinal Matrix	brain
38	chr19:44508400-44511000	Weak transcription	Fetal Brain Female	brain
39	chr19:44508400-44511000	Weak transcription	Fetal Kidney	kidney
40	chr19:44508400-44511000	Weak transcription	Placenta	Placenta
41	chr19:44508400-44511000	Weak transcription	Small Intestine	intestine
42	chr19:44508400-44511000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:44508400-44511000	Weak transcription	Thymus	Thymus
44	chr19:44508400-44511000	Weak transcription	Spleen	Spleen
45	chr19:44508400-44511200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:44508400-44511200	Weak transcription	Brain Anterior Caudate	brain
47	chr19:44508400-44511200	Weak transcription	Colonic Mucosa	Colon
48	chr19:44508400-44511200	Weak transcription	HUVEC	blood vessel
49	chr19:44508400-44511400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:44508400-44511400	Weak transcription	Brain Cingulate Gyrus	brain

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