Variant report

Variant	rs2804672
Chromosome Location	chr10:38656887-38656888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2754359	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs2800476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2804644	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2804673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv33710	chr10:38545898-38671289	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv427860	chr10:38588021-38818835	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv895034	chr10:38632352-38743545	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv947859	chr10:38633447-38674546	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2764202	chr10:38641508-39076221	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1048953	chr10:38645824-39074038	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv428230	chr10:38652001-38818835	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2804672	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38645600-38660000	Weak transcription	Spleen	Spleen
2	chr10:38645600-38660200	Weak transcription	Aorta	Aorta
3	chr10:38645600-38661600	Weak transcription	Small Intestine	intestine
4	chr10:38645800-38660000	Weak transcription	Esophagus	oesophagus
5	chr10:38645800-38660000	Weak transcription	Gastric	stomach
6	chr10:38645800-38660000	Weak transcription	Pancreas	Pancrea
7	chr10:38645800-38661000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:38645800-38662200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:38645800-38662400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr10:38645800-38669000	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:38646000-38660000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:38646000-38660000	Weak transcription	Ovary	ovary
13	chr10:38646000-38661600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:38646000-38661800	Weak transcription	HSMM	muscle
15	chr10:38646000-38662200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:38646000-38665200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:38646000-38670600	Weak transcription	Fetal Stomach	stomach
18	chr10:38646200-38657200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:38646200-38658400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr10:38646200-38660000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr10:38646200-38660200	Weak transcription	Brain Anterior Caudate	brain
22	chr10:38646200-38662400	Weak transcription	Osteobl	bone
23	chr10:38646200-38667000	Weak transcription	Fetal Intestine Small	intestine
24	chr10:38646200-38669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:38646200-38669200	Weak transcription	Right Ventricle	heart
26	chr10:38646400-38660200	Weak transcription	Brain Substantia Nigra	brain
27	chr10:38646400-38660200	Weak transcription	HSMMtube	muscle
28	chr10:38646400-38661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:38646400-38661000	Weak transcription	Stomach Mucosa	stomach
30	chr10:38646400-38661600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr10:38646400-38661800	Weak transcription	Brain Angular Gyrus	brain
32	chr10:38646400-38661800	Weak transcription	Fetal Kidney	kidney
33	chr10:38646400-38662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:38646400-38662200	Weak transcription	NHLF	lung
35	chr10:38646600-38662400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr10:38646800-38661400	Weak transcription	NHEK	skin
37	chr10:38647000-38660200	Weak transcription	Fetal Brain Male	brain
38	chr10:38647600-38660000	Weak transcription	Fetal Brain Female	brain
39	chr10:38647800-38661200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:38648200-38660000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:38648200-38662000	Strong transcription	Liver	Liver
42	chr10:38648200-38668600	Weak transcription	HUVEC	blood vessel
43	chr10:38648400-38660000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr10:38649400-38657000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr10:38649800-38658200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr10:38650400-38661600	Strong transcription	Dnd41	blood
47	chr10:38650600-38658000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr10:38651400-38658400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr10:38651800-38659800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr10:38653000-38658400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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