Variant report

Variant	rs10904177
Chromosome Location	chr10:4112318-4112319
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4104934..4107897-chr10:4109686..4112440,3	K562	blood:

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

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

rs_ID	r²[population]
rs11252318	0.83[CHB][hapmap]
rs2003416	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2069178	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2397710	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7914320	0.82[AMR][1000 genomes];1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10904177	AKR1C2	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4104400-4117200	Weak transcription	Small Intestine	intestine
2	chr10:4107800-4113000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr10:4108000-4115000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:4109000-4112400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:4109200-4112400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr10:4109200-4112400	Enhancers	NHDF-Ad	bronchial
7	chr10:4109200-4112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:4109200-4112800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:4109200-4112800	Enhancers	Osteobl	bone
10	chr10:4109200-4113000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:4109200-4113000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:4109400-4112600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:4109400-4113000	Enhancers	HUVEC	blood vessel
14	chr10:4109400-4113400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:4109800-4113400	Enhancers	HMEC	breast
16	chr10:4109800-4116200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:4110000-4113000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:4110200-4113200	Enhancers	NHEK	skin
19	chr10:4110200-4113400	Weak transcription	Primary B cells from cord blood	blood
20	chr10:4110200-4115400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr10:4110200-4116000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:4110400-4115800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:4110400-4116000	Weak transcription	HSMM	muscle
24	chr10:4110400-4117000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:4110600-4116200	Weak transcription	Stomach Mucosa	stomach
26	chr10:4110800-4115800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:4110800-4116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:4111000-4114800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:4111200-4112400	Enhancers	Fetal Kidney	kidney
30	chr10:4111400-4112400	Enhancers	Fetal Heart	heart
31	chr10:4111400-4114000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:4111600-4112400	Enhancers	Fetal Muscle Leg	muscle
33	chr10:4111600-4113000	Enhancers	Fetal Lung	lung
34	chr10:4111600-4113200	Enhancers	Ovary	ovary
35	chr10:4111600-4113400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:4111800-4112400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:4111800-4112400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr10:4111800-4112400	Enhancers	Fetal Intestine Small	intestine
39	chr10:4111800-4113000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:4111800-4113000	Weak transcription	Esophagus	oesophagus
41	chr10:4112000-4113000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr10:4112000-4113200	Weak transcription	Placenta	Placenta
43	chr10:4112000-4116000	Weak transcription	Primary T cells from cord blood	blood
44	chr10:4112000-4116000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:4112000-4116000	Weak transcription	Right Ventricle	heart
46	chr10:4112000-4116200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:4112000-4116200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr10:4112000-4116200	Weak transcription	Fetal Thymus	thymus
49	chr10:4112000-4116200	Weak transcription	Left Ventricle	heart
50	chr10:4112000-4122000	Weak transcription	Spleen	Spleen

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