Variant report

Variant	rs73564041
Chromosome Location	chr19:44648565-44648566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44644894..44647318-chr19:44647598..44649743,2	MCF-7	breast:
2	chr19:44644376..44645902-chr19:44648536..44650255,2	MCF-7	breast:
3	chr19:44648468..44650180-chr19:44664736..44666479,2	K562	blood:

Variant related genes	Relation type
ENSG00000263002	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10404927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10423177	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[AMR][1000 genomes]
rs13345528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16978966	1.00[AMR][1000 genomes]
rs28462219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28818931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34493848	1.00[AMR][1000 genomes]
rs34863330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57369690	1.00[EUR][1000 genomes]
rs58935748	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59897069	1.00[AMR][1000 genomes]
rs60852988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61185843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[AMR][1000 genomes]
rs73553212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553253	1.00[EUR][1000 genomes]
rs73555119	1.00[EUR][1000 genomes]
rs73556274	1.00[AMR][1000 genomes]
rs73558239	1.00[EUR][1000 genomes]
rs73558248	1.00[AMR][1000 genomes]
rs73558286	1.00[AMR][1000 genomes]
rs73558298	1.00[AMR][1000 genomes]
rs73558301	1.00[AMR][1000 genomes]
rs73562181	1.00[AMR][1000 genomes]
rs73562187	1.00[AMR][1000 genomes]
rs73562192	1.00[AMR][1000 genomes]
rs73562196	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73564027	1.00[EUR][1000 genomes]
rs73564035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73564093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73567974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73569942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113493	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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44646600-44648600	Weak transcription	Esophagus	oesophagus
2	chr19:44646600-44648800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:44646600-44649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:44646600-44650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:44646600-44652800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:44646600-44653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:44646800-44648600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:44646800-44648600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:44646800-44648600	Weak transcription	Primary B cells from cord blood	blood
10	chr19:44646800-44648600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr19:44646800-44648600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr19:44646800-44648600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:44646800-44648600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr19:44646800-44648600	Weak transcription	Left Ventricle	heart
15	chr19:44646800-44648600	Weak transcription	Lung	lung
16	chr19:44646800-44648600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:44646800-44648600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:44646800-44648600	Weak transcription	Thymus	Thymus
19	chr19:44646800-44648800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr19:44646800-44648800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr19:44646800-44648800	Weak transcription	Fetal Intestine Large	intestine
22	chr19:44646800-44648800	Weak transcription	Fetal Thymus	thymus
23	chr19:44646800-44649000	Weak transcription	Colonic Mucosa	Colon
24	chr19:44646800-44649600	Weak transcription	Fetal Stomach	stomach
25	chr19:44646800-44651400	Weak transcription	Fetal Intestine Small	intestine
26	chr19:44646800-44651400	Weak transcription	Pancreas	Pancrea
27	chr19:44646800-44651600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:44646800-44652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:44646800-44652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:44646800-44652200	Weak transcription	Small Intestine	intestine
31	chr19:44646800-44652800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:44646800-44653800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:44646800-44656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:44646800-44657800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:44646800-44660200	Weak transcription	Stomach Mucosa	stomach
36	chr19:44647000-44648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:44647000-44648600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:44647000-44648600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr19:44647000-44648600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:44647000-44648600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:44647000-44648600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:44647000-44648600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:44647000-44648600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:44647000-44648600	Weak transcription	Brain Anterior Caudate	brain
45	chr19:44647000-44648600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:44647000-44648600	Weak transcription	Brain Substantia Nigra	brain
47	chr19:44647000-44648600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:44647000-44648600	Weak transcription	GM12878-XiMat	blood
49	chr19:44647000-44648600	Weak transcription	HMEC	breast
50	chr19:44647000-44648600	Weak transcription	HSMMtube	muscle

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