Variant report

Variant	rs11627187
Chromosome Location	chr14:24751734-24751735
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24711970..24713613-chr14:24750693..24753495,2	K562	blood:
2	chr14:24710523..24713470-chr14:24750421..24752193,2	K562	blood:
3	chr14:24742260..24745882-chr14:24750433..24756794,5	K562	blood:
4	chr14:24751698..24753375-chr14:24755216..24757197,2	K562	blood:
5	chr14:24680449..24682694-chr14:24749416..24752325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254505	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000254692	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11627152	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586530	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1950491	0.82[EUR][1000 genomes]
rs2281473	0.87[GIH][hapmap]
rs3825585	0.87[GIH][hapmap]

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
rs11627187	DHRS1	cis	lymphoblastoid	seeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24753200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:24741200-24758800	Weak transcription	Aorta	Aorta
3	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:24741400-24751800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:24741400-24752200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:24741400-24752200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:24741400-24757800	Weak transcription	Fetal Stomach	stomach
8	chr14:24741400-24758600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:24741400-24758800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:24741600-24758400	Weak transcription	Fetal Intestine Large	intestine
11	chr14:24741600-24758600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:24741600-24758600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:24741600-24759200	Weak transcription	Small Intestine	intestine
14	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
15	chr14:24741800-24758800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:24742000-24758600	Weak transcription	Thymus	Thymus
17	chr14:24743400-24754600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:24743400-24758600	Weak transcription	Gastric	stomach
19	chr14:24743800-24758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:24743800-24759000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:24745200-24756400	Weak transcription	HepG2	liver
22	chr14:24745200-24758800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:24746000-24751800	Enhancers	Primary B cells from peripheral blood	blood
24	chr14:24746000-24752000	Enhancers	Primary B cells from cord blood	blood
25	chr14:24746400-24751800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:24746400-24758600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:24746800-24758600	Weak transcription	Colonic Mucosa	Colon
28	chr14:24747200-24752600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:24747200-24752800	Weak transcription	Fetal Muscle Leg	muscle
30	chr14:24747800-24752000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr14:24748000-24764800	Weak transcription	K562	blood
32	chr14:24748600-24758600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
34	chr14:24748800-24751800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr14:24748800-24756400	Weak transcription	Fetal Intestine Small	intestine
36	chr14:24748800-24758600	Weak transcription	Brain Anterior Caudate	brain
37	chr14:24748800-24764800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:24749000-24753600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:24749000-24758600	Weak transcription	HSMM	muscle
40	chr14:24749000-24758800	Weak transcription	Pancreas	Pancrea
41	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
42	chr14:24749200-24753000	Weak transcription	HMEC	breast
43	chr14:24749200-24753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:24749200-24758600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr14:24749200-24758600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:24749200-24758600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:24749200-24758600	Weak transcription	Fetal Thymus	thymus
48	chr14:24749200-24759400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:24749400-24758600	Weak transcription	Liver	Liver
50	chr14:24749400-24758600	Weak transcription	Duodenum Mucosa	Duodenum

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