Variant report

Variant	rs10904382
Chromosome Location	chr10:5024838-5024839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5023921..5025963-chr10:5094008..5095926,2	MCF-7	breast:
2	chr10:5023796..5026040-chr10:5031260..5032791,2	K562	blood:
3	chr10:4891514..4892562-chr10:5023687..5025924,15	MCF-7	breast:
4	chr10:5004721..5007199-chr10:5024494..5026603,2	K562	blood:
5	chr10:4911007..4912573-chr10:5023921..5026705,2	K562	blood:
6	chr10:5023813..5025849-chr10:5137556..5139143,2	K562	blood:
7	chr10:4867291..4868823-chr10:5022590..5025405,2	K562	blood:
8	chr10:5024232..5024860-chr10:5325292..5325936,2	K562	blood:
9	chr10:4891591..4892354-chr10:5023997..5025273,3	K562	blood:
10	chr10:5024450..5027192-chr10:5491126..5493048,2	K562	blood:
11	chr10:5024162..5026644-chr10:5236522..5238758,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C3-4	chr10:5022258-5025472	NONHSAT011123

No data

Variant related genes	Relation type
ENSG00000165568	Chromatin interaction
ENSG00000251909	Chromatin interaction
ENSG00000187134	Chromatin interaction
ENSG00000196139	Chromatin interaction
ENSG00000238840	Chromatin interaction
ENSG00000198610	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12264914	1.00[JPT][hapmap]
rs7909151	0.85[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10904382	ATP5C1	cis	parietal	SCAN
rs10904382	AKR1C2	cis	multi-tissue	Pritchard
rs10904382	tAKR	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
2	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
3	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
4	chr10:5009400-5027200	Weak transcription	Spleen	Spleen
5	chr10:5009600-5027000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:5011600-5044200	Weak transcription	Fetal Brain Female	brain
7	chr10:5011800-5027000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr10:5011800-5043800	Weak transcription	Psoas Muscle	Psoas
9	chr10:5012000-5027000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:5019400-5044600	Weak transcription	Brain Germinal Matrix	brain
11	chr10:5021600-5032600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:5021800-5044400	Weak transcription	NHDF-Ad	bronchial
13	chr10:5023600-5025400	Enhancers	Fetal Muscle Leg	muscle
14	chr10:5023800-5025000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr10:5023800-5025400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:5023800-5025400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:5023800-5025400	Enhancers	Placenta	Placenta
18	chr10:5023800-5025400	Enhancers	Right Ventricle	heart
19	chr10:5023800-5025600	Enhancers	Adipose Nuclei	Adipose
20	chr10:5023800-5027800	Enhancers	Pancreas	Pancrea
21	chr10:5024000-5025400	Enhancers	Fetal Muscle Trunk	muscle
22	chr10:5024000-5032400	Weak transcription	Liver	Liver
23	chr10:5024200-5025400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:5024200-5025600	Enhancers	Stomach Mucosa	stomach
25	chr10:5024200-5026600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:5024200-5027200	Weak transcription	Lung	lung
27	chr10:5024400-5025200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:5024400-5025200	Enhancers	K562	blood
29	chr10:5024400-5026400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:5024400-5026400	Weak transcription	HepG2	liver
31	chr10:5024400-5026600	Weak transcription	Right Atrium	heart
32	chr10:5024400-5027000	Weak transcription	Osteobl	bone
33	chr10:5024400-5027200	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:5024400-5027200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr10:5024400-5028400	Enhancers	Fetal Heart	heart
36	chr10:5024400-5032800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr10:5024400-5036400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr10:5024400-5039400	Weak transcription	Ovary	ovary
39	chr10:5024400-5040400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr10:5024400-5040600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:5024400-5056800	Weak transcription	Esophagus	oesophagus
42	chr10:5024600-5025000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr10:5024600-5025400	Enhancers	Hela-S3	cervix
44	chr10:5024600-5026600	Weak transcription	Gastric	stomach
45	chr10:5024600-5026600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr10:5024600-5032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:5024800-5027000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:5024800-5027000	Weak transcription	Left Ventricle	heart
49	chr10:5024800-5027800	Weak transcription	Aorta	Aorta
50	chr10:5024800-5028800	Enhancers	A549	lung

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