Variant report

Variant	rs377934
Chromosome Location	chr19:44456229-44456230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44439254..44441098-chr19:44452141..44456291,4	K562	blood:

Variant related genes	Relation type
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10402944	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299936	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429734	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs366431	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs368492	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs376655	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs381220	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs381872	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs385202	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs385578	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs386249	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs386747	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs387504	0.82[EUR][1000 genomes]
rs388547	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs390134	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs391961	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs394132	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs394380	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs395419	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs396188	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs400591	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs401770	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs413061	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs415468	0.83[EUR][1000 genomes]
rs415867	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs424041	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs427401	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs429611	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs437700	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs439417	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs441386	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs441742	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs442543	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs444816	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs445865	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs453682	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs454376	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[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	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
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44454800-44456400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:44454800-44456400	Active TSS	Brain Anterior Caudate	brain
3	chr19:44454800-44456400	Active TSS	Brain Hippocampus Middle	brain
4	chr19:44454800-44456400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:44454800-44456400	Active TSS	HMEC	breast
6	chr19:44454800-44456600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr19:44454800-44456600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:44454800-44456600	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:44454800-44456600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:44454800-44456600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr19:44454800-44456600	Active TSS	Rectal Smooth Muscle	rectum
12	chr19:44454800-44456600	Flanking Active TSS	Dnd41	blood
13	chr19:44454800-44456600	Active TSS	HUVEC	blood vessel
14	chr19:44454800-44456800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:44454800-44456800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:44454800-44456800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:44454800-44456800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:44454800-44457000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr19:44454800-44460000	ZNF genes & repeats	Fetal Brain Male	brain
20	chr19:44455000-44456400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:44455000-44456400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:44455000-44456400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:44455000-44456400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:44455000-44456400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:44455000-44456400	Active TSS	Brain Cingulate Gyrus	brain
26	chr19:44455000-44456400	Active TSS	Fetal Brain Female	brain
27	chr19:44455000-44456400	Active TSS	Fetal Kidney	kidney
28	chr19:44455000-44456400	Active TSS	Psoas Muscle	Psoas
29	chr19:44455000-44456400	Active TSS	Right Atrium	heart
30	chr19:44455000-44456400	Active TSS	HSMM	muscle
31	chr19:44455000-44456400	Active TSS	NH-A	brain
32	chr19:44455000-44456400	Active TSS	NHLF	lung
33	chr19:44455000-44456600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr19:44455000-44456600	Active TSS	Brain Angular Gyrus	brain
35	chr19:44455000-44456600	Active TSS	Brain Substantia Nigra	brain
36	chr19:44455000-44456600	Active TSS	Right Ventricle	heart
37	chr19:44455000-44456600	Active TSS	Stomach Smooth Muscle	stomach
38	chr19:44455000-44456600	Active TSS	HSMMtube	muscle
39	chr19:44455000-44456600	Active TSS	NHDF-Ad	bronchial
40	chr19:44455000-44456800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr19:44455000-44456800	Active TSS	Colon Smooth Muscle	Colon
42	chr19:44455200-44456400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr19:44455200-44456400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr19:44455200-44456400	Active TSS	Osteobl	bone
45	chr19:44455200-44456600	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr19:44455200-44456600	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr19:44455200-44456800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:44455800-44456400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:44455800-44456800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:44455800-44457000	Active TSS	Skeletal Muscle Female	skeletal muscle

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