Variant report

Variant	rs7245454
Chromosome Location	chr19:38768108-38768109
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38767240..38769774-chr19:38804248..38806367,2	K562	blood:
2	chr19:38760891..38763037-chr19:38767693..38769618,2	K562	blood:
3	chr19:38767203..38770280-chr19:38808576..38810969,4	MCF-7	breast:
4	chr19:38765937..38769216-chr19:38788492..38791727,3	MCF-7	breast:
5	chr19:38765291..38770264-chr19:38793708..38796948,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167644	Chromatin interaction
ENSG00000099337	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12610606	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2060244	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs34276782	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34508901	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35029752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35366094	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3745949	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6508781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71354994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7253823	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7254637	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7259936	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73037326	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription 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	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38756600-38772600	Weak transcription	Primary T cells from cord blood	blood
2	chr19:38756600-38772600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:38756800-38772600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr19:38756800-38774800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr19:38756800-38775000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:38756800-38778600	Weak transcription	Thymus	Thymus
7	chr19:38756800-38779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:38758000-38770800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:38758000-38770800	Weak transcription	Primary B cells from cord blood	blood
10	chr19:38758000-38774200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr19:38758200-38770800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:38758400-38774400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:38758800-38770600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr19:38759000-38770800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:38759400-38770800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:38759600-38783200	Weak transcription	Fetal Brain Male	brain
17	chr19:38759800-38768200	Weak transcription	Fetal Kidney	kidney
18	chr19:38761200-38769000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:38761400-38770600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:38761600-38768200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr19:38761600-38768800	Weak transcription	Fetal Thymus	thymus
22	chr19:38761600-38769000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:38761600-38770800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:38761600-38770800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:38761600-38773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:38761800-38768400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr19:38761800-38770800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:38764200-38768600	Weak transcription	Fetal Stomach	stomach
29	chr19:38764400-38771200	Weak transcription	Liver	Liver
30	chr19:38764600-38768200	Weak transcription	HepG2	liver
31	chr19:38764800-38768800	Enhancers	Fetal Heart	heart
32	chr19:38765200-38769600	Enhancers	Adipose Nuclei	Adipose
33	chr19:38765400-38768200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:38765400-38768800	Weak transcription	Gastric	stomach
35	chr19:38765600-38768400	Weak transcription	K562	blood
36	chr19:38765600-38770800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr19:38765800-38768200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:38765800-38768400	Weak transcription	Colonic Mucosa	Colon
39	chr19:38765800-38768400	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:38765800-38768400	Strong transcription	Fetal Intestine Small	intestine
41	chr19:38765800-38768400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:38765800-38768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:38765800-38768800	Weak transcription	Right Atrium	heart
44	chr19:38765800-38769000	Weak transcription	Right Ventricle	heart
45	chr19:38765800-38772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:38765800-38794800	Weak transcription	Small Intestine	intestine
47	chr19:38766000-38768400	Weak transcription	Brain Anterior Caudate	brain
48	chr19:38766000-38768400	Weak transcription	Brain Substantia Nigra	brain
49	chr19:38766200-38768200	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:38766200-38769600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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