Variant report

Variant	rs2069178
Chromosome Location	chr10:4128024-4128025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4124093..4126058-chr10:4126935..4129373,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10904177	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11252318	0.83[CHB][hapmap];0.82[MEX][hapmap]
rs2003416	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2397710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7914320	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1046213	chr10:4059937-4144692	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv540460	chr10:4059937-4144692	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2069178	tAKR	cis	cerebellum	SCAN
rs2069178	AKR1C2	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4121800-4128200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr10:4123600-4128400	Enhancers	Adipose Nuclei	Adipose
3	chr10:4123600-4128800	Enhancers	Fetal Heart	heart
4	chr10:4124200-4128200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:4125800-4128200	Weak transcription	Brain Germinal Matrix	brain
6	chr10:4125800-4128600	Weak transcription	Fetal Intestine Small	intestine
7	chr10:4126000-4128200	Weak transcription	Psoas Muscle	Psoas
8	chr10:4126000-4128600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:4126000-4128600	Weak transcription	Right Atrium	heart
10	chr10:4126200-4128200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr10:4126200-4128200	Weak transcription	Fetal Muscle Leg	muscle
12	chr10:4126200-4128200	Weak transcription	Ovary	ovary
13	chr10:4126200-4128200	Weak transcription	Osteobl	bone
14	chr10:4126200-4128400	Weak transcription	Aorta	Aorta
15	chr10:4126200-4128400	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:4126200-4128400	Weak transcription	Right Ventricle	heart
17	chr10:4126200-4128400	Weak transcription	HUVEC	blood vessel
18	chr10:4126200-4128600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:4126200-4128600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr10:4126200-4128800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:4126400-4128200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:4126400-4128200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:4126400-4128200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:4126400-4128200	Weak transcription	Fetal Brain Female	brain
25	chr10:4126400-4128400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:4126400-4128600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:4126400-4128800	Weak transcription	Fetal Kidney	kidney
28	chr10:4126800-4128200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:4127200-4128600	Enhancers	Left Ventricle	heart
30	chr10:4127200-4129000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:4127600-4128200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr10:4127600-4128200	Enhancers	Fetal Lung	lung
33	chr10:4127800-4129200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:4128000-4129200	Enhancers	Fetal Brain Male	brain

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