Variant report

Variant	rs10844189
Chromosome Location	chr12:32487924-32487925
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	chr12:32486141..32488107-chr12:32489173..32490797,2	K562	blood:

Variant related genes	Relation type
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10771939	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10771940	0.80[LWK][hapmap]
rs10844187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10844190	0.93[ASN][1000 genomes]
rs10844194	0.89[CEU][hapmap]
rs11051966	0.89[CEU][hapmap]
rs11051967	0.85[CEU][hapmap]
rs12299219	0.81[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs12312730	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs16919768	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2291419	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3789976	1.00[CEU][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7297899	0.93[ASN][1000 genomes]
rs7955481	0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs901600	0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs904639	0.92[CHB][hapmap];1.00[JPT][hapmap];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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10844189	OVCH1	cis	parietal	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32449600-32490200	Weak transcription	HSMMtube	muscle
2	chr12:32457200-32494400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:32460400-32514600	Weak transcription	HMEC	breast
4	chr12:32472600-32489200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:32472800-32493600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:32475000-32490200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:32475400-32500200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:32475800-32492000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:32475800-32495800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:32475800-32502200	Weak transcription	Brain Substantia Nigra	brain
12	chr12:32475800-32512200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:32476400-32505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:32476400-32515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:32476600-32493400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:32477200-32490400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:32477200-32500800	Weak transcription	Hela-S3	cervix
18	chr12:32478400-32490400	Weak transcription	NHLF	lung
19	chr12:32478600-32490200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:32478600-32490400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:32478800-32490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:32478800-32490400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:32478800-32498800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:32479000-32493600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:32479200-32492400	Weak transcription	Small Intestine	intestine
26	chr12:32479200-32502200	Weak transcription	NHDF-Ad	bronchial
27	chr12:32479200-32504200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:32479400-32490400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:32479400-32494400	Weak transcription	Right Ventricle	heart
30	chr12:32479400-32501200	Weak transcription	Fetal Brain Male	brain
31	chr12:32479600-32491800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:32480200-32494000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:32481000-32490400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:32481200-32490400	Weak transcription	NH-A	brain
36	chr12:32481200-32493800	Weak transcription	Fetal Thymus	thymus
37	chr12:32481400-32490400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:32481400-32511800	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:32481600-32490400	Weak transcription	Primary B cells from cord blood	blood
40	chr12:32481600-32490400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:32481600-32490400	Weak transcription	Brain Angular Gyrus	brain
42	chr12:32481600-32490400	Weak transcription	Fetal Intestine Large	intestine
43	chr12:32481600-32490400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:32481600-32490600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:32481600-32496600	Weak transcription	Brain Anterior Caudate	brain
46	chr12:32481600-32497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:32481600-32501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:32481800-32490400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:32481800-32490400	Weak transcription	Aorta	Aorta
50	chr12:32481800-32490400	Weak transcription	Brain Inferior Temporal Lobe	brain

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