Variant report

Variant	rs2291903
Chromosome Location	chr3:47717626-47717627
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47715804..47717955-chr3:47720020..47722528,2	K562	blood:
2	chr3:47705662..47709431-chr3:47715334..47718501,4	K562	blood:
3	chr3:47711154..47712847-chr3:47715505..47718289,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10865948	0.81[JPT][hapmap]
rs11130138	0.86[JPT][hapmap]
rs11927789	0.89[AMR][1000 genomes]
rs4858867	0.80[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs73083150	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs869508	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv590232	chr3:47681881-47765547	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2291903	DHX30	cis	normal skin	skin_eQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
3	chr3:47672000-47718600	Weak transcription	Right Ventricle	heart
4	chr3:47673600-47719200	Weak transcription	Small Intestine	intestine
5	chr3:47677200-47720000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:47678000-47717800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:47684800-47718400	Weak transcription	Spleen	Spleen
8	chr3:47688200-47763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:47688600-47718000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:47692800-47719200	Weak transcription	Gastric	stomach
11	chr3:47694400-47745800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:47695200-47737200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:47698400-47731400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:47700200-47757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:47700600-47718400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:47701200-47765000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:47701200-47765600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:47701400-47739800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:47701600-47762200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:47701600-47800400	Strong transcription	Dnd41	blood
21	chr3:47701600-47819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:47701800-47726800	Weak transcription	Right Atrium	heart
23	chr3:47702200-47790400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:47702800-47722600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:47704000-47788600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:47705400-47717800	Weak transcription	Lung	lung
27	chr3:47705400-47718000	Weak transcription	Aorta	Aorta
28	chr3:47705600-47718600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:47705600-47727200	Weak transcription	Pancreas	Pancrea
30	chr3:47705600-47742800	Weak transcription	Esophagus	oesophagus
31	chr3:47705800-47739200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:47706200-47728000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:47707200-47723000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:47707200-47737000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr3:47707200-47739400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:47707200-47780800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:47707200-47781400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:47707400-47721600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr3:47707600-47737400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr3:47707600-47762600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:47708400-47737400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:47708800-47737000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr3:47709000-47722000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:47709000-47725600	Strong transcription	GM12878-XiMat	blood
45	chr3:47709200-47722200	Strong transcription	Liver	Liver
46	chr3:47709400-47734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:47709800-47732400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:47710000-47722400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:47710200-47722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:47710600-47722000	Strong transcription	Adipose Nuclei	Adipose

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