Variant report

Variant	rs34158728
Chromosome Location	chr19:38903032-38903033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr19:38902962-38903171	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38902240..38904115-chr19:38942257..38943980,2	K562	blood:
2	chr19:38902615..38904931-chr19:38918308..38920635,2	K562	blood:
3	chr19:38881161..38882729-chr19:38901627..38904199,2	K562	blood:
4	chr19:38891109..38897587-chr19:38900077..38906045,7	MCF-7	breast:
5	chr19:38900995..38903481-chr19:38906276..38908825,3	MCF-7	breast:
6	chr19:38902468..38905281-chr19:38906222..38909394,4	K562	blood:
7	chr19:38902829..38905069-chr19:38921076..38923752,2	K562	blood:
8	chr19:38887111..38889770-chr19:38902158..38903990,2	K562	blood:
9	chr19:38902498..38904989-chr19:38906494..38908347,2	MCF-7	breast:
10	chr19:38902157..38904217-chr19:38930649..38933242,3	K562	blood:

No data

Variant related genes	Relation type
RASGRP4	TF binding region
ENSG00000188766	Chromatin interaction
ENSG00000171777	Chromatin interaction
ENSG00000130244	Chromatin interaction
ENSG00000267473	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11883126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12971920	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12972609	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12972895	1.00[EUR][1000 genomes]
rs12973210	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12974363	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12974979	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12975212	0.96[EUR][1000 genomes]
rs12982894	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12986359	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17640544	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34026587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34377632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34411591	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34456672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34898849	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35136248	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71356804	1.00[EUR][1000 genomes]
rs71356805	1.00[EUR][1000 genomes]
rs9916978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38894400-38903400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:38894400-38908000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:38894600-38907800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:38894600-38908000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr19:38894600-38908400	Weak transcription	Left Ventricle	heart
6	chr19:38894600-38908400	Weak transcription	HUVEC	blood vessel
7	chr19:38894800-38908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:38894800-38908400	Weak transcription	Small Intestine	intestine
9	chr19:38895000-38903400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:38895000-38905800	Weak transcription	Brain Germinal Matrix	brain
11	chr19:38895000-38907800	Weak transcription	GM12878-XiMat	blood
12	chr19:38895000-38908000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:38895000-38908400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:38895200-38904200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:38895200-38906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:38895200-38907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:38895200-38908200	Weak transcription	Fetal Thymus	thymus
18	chr19:38895400-38907800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:38895400-38908000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:38895600-38906000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:38895800-38907600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:38897800-38907600	Weak transcription	Esophagus	oesophagus
23	chr19:38897800-38908400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:38898000-38903400	Weak transcription	Fetal Intestine Large	intestine
25	chr19:38898000-38903800	Weak transcription	Lung	lung
26	chr19:38898000-38904000	Weak transcription	Right Ventricle	heart
27	chr19:38898000-38904800	Weak transcription	Fetal Brain Female	brain
28	chr19:38898000-38905000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr19:38898000-38906000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:38898000-38907800	Weak transcription	Primary B cells from cord blood	blood
31	chr19:38898000-38908000	Weak transcription	Pancreas	Pancrea
32	chr19:38898000-38908200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:38898000-38908200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr19:38898000-38908400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:38898000-38908400	Weak transcription	Brain Anterior Caudate	brain
36	chr19:38898000-38908400	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:38898000-38908400	Weak transcription	Gastric	stomach
38	chr19:38898000-38908400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr19:38898000-38908600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:38898000-38908600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:38898200-38903400	Weak transcription	Thymus	Thymus
42	chr19:38898200-38908000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr19:38898200-38908600	Weak transcription	Fetal Lung	lung
44	chr19:38898800-38904200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:38898800-38907600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr19:38898800-38907600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:38898800-38907800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:38898800-38908200	Weak transcription	Primary T cells from cord blood	blood
49	chr19:38899200-38906200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:38899200-38908000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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