Variant report

Variant	rs2295313
Chromosome Location	chr14:24739055-24739056
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:24738934-24739150	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr14:24739040-24739190	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24738849..24740758-chr14:24911753..24913964,2	MCF-7	breast:
2	chr14:24683518..24685322-chr14:24738872..24741925,4	K562	blood:
3	chr14:24731299..24737661-chr14:24737668..24742603,15	K562	blood:
4	chr14:24728033..24731088-chr14:24738307..24741895,4	K562	blood:
5	chr14:24710128..24713467-chr14:24737949..24741923,9	K562	blood:
6	chr14:24680755..24686632-chr14:24737203..24743863,8	MCF-7	breast:
7	chr14:24738558..24740532-chr14:24907754..24910468,2	MCF-7	breast:
8	chr14:24738683..24743110-chr14:24766285..24769354,4	K562	blood:
9	chr14:24710704..24713128-chr14:24738885..24741180,4	K562	blood:
10	chr14:24737357..24740167-chr14:24791316..24793649,2	MCF-7	breast:

No data

Variant related genes	Relation type
RABGGTA	TF binding region
ENSG00000213920	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000092330	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11158621	0.85[EUR][1000 genomes]
rs3940231	0.85[EUR][1000 genomes]
rs4982886	0.85[EUR][1000 genomes]
rs4982887	0.85[EUR][1000 genomes]
rs729421	0.85[EUR][1000 genomes]
rs941502	0.85[EUR][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2295313	DHRS1	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24712600-24740000	Weak transcription	Small Intestine	intestine
2	chr14:24713000-24740000	Weak transcription	Right Atrium	heart
3	chr14:24716400-24739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:24716600-24739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:24720000-24739600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:24721200-24739400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:24721600-24739800	Weak transcription	HUVEC	blood vessel
8	chr14:24722600-24740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:24726200-24739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:24726800-24739800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:24727800-24739800	Weak transcription	K562	blood
12	chr14:24728400-24739800	Strong transcription	Fetal Intestine Small	intestine
13	chr14:24729000-24739800	Weak transcription	NH-A	brain
14	chr14:24729000-24740000	Weak transcription	HSMM	muscle
15	chr14:24729600-24739600	Strong transcription	Fetal Stomach	stomach
16	chr14:24729600-24739800	Weak transcription	A549	lung
17	chr14:24729800-24739800	Weak transcription	Hela-S3	cervix
18	chr14:24731800-24739200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:24732000-24739400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:24732000-24739600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr14:24732000-24739600	Strong transcription	Lung	lung
22	chr14:24732600-24740000	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:24732800-24739600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:24732800-24739800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:24733200-24739200	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr14:24733200-24739400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:24733200-24739400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:24733200-24740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:24733400-24739200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr14:24733800-24739200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr14:24733800-24739400	Strong transcription	HepG2	liver
32	chr14:24733800-24739800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:24734000-24739200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:24734000-24739400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:24734000-24739400	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:24734200-24739200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr14:24734200-24739200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:24734200-24739600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:24734400-24739200	Strong transcription	Primary T cells from cord blood	blood
40	chr14:24734400-24739200	Strong transcription	Brain Anterior Caudate	brain
41	chr14:24734400-24739200	Strong transcription	Gastric	stomach
42	chr14:24734400-24739200	Strong transcription	Osteobl	bone
43	chr14:24734400-24739400	Strong transcription	Fetal Intestine Large	intestine
44	chr14:24734400-24739800	Strong transcription	Placenta	Placenta
45	chr14:24734400-24740000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:24734400-24740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:24734400-24740000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:24734600-24739400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:24734600-24739400	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr14:24734600-24739600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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