Variant report

Variant	rs10844190
Chromosome Location	chr12:32493592-32493593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32492207..32495793-chr12:32495983..32500646,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10771939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844189	0.93[ASN][1000 genomes]
rs12299219	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16919768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291419	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7297899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955481	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901600	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][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	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32457200-32494400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:32460400-32514600	Weak transcription	HMEC	breast
3	chr12:32472800-32493600	Weak transcription	Adipose Nuclei	Adipose
4	chr12:32475400-32500200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:32475800-32495800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:32475800-32502200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:32475800-32512200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:32476400-32505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:32476400-32515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:32477200-32500800	Weak transcription	Hela-S3	cervix
12	chr12:32478800-32498800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:32479000-32493600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:32479200-32502200	Weak transcription	NHDF-Ad	bronchial
15	chr12:32479200-32504200	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:32479400-32494400	Weak transcription	Right Ventricle	heart
17	chr12:32479400-32501200	Weak transcription	Fetal Brain Male	brain
18	chr12:32480200-32494000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:32481200-32493800	Weak transcription	Fetal Thymus	thymus
21	chr12:32481400-32511800	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:32481600-32496600	Weak transcription	Brain Anterior Caudate	brain
23	chr12:32481600-32497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:32481600-32501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:32481800-32495800	Weak transcription	Left Ventricle	heart
26	chr12:32482000-32496000	Weak transcription	HSMM	muscle
27	chr12:32484400-32515600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:32484800-32493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:32484800-32496200	Weak transcription	A549	lung
30	chr12:32485800-32520000	Weak transcription	Fetal Kidney	kidney
31	chr12:32486000-32510800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:32486200-32494800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:32486800-32496400	Weak transcription	HUVEC	blood vessel
34	chr12:32487200-32502400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:32487800-32494000	Weak transcription	GM12878-XiMat	blood
36	chr12:32488800-32494200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:32489200-32498600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:32489800-32494000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:32490000-32496600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:32490200-32493800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr12:32490200-32494800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:32490400-32493800	Strong transcription	Osteobl	bone
43	chr12:32490400-32494000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr12:32490400-32494200	Strong transcription	Ovary	ovary
45	chr12:32490600-32495600	Weak transcription	NHEK	skin
46	chr12:32490800-32493800	Weak transcription	NHLF	lung
47	chr12:32490800-32497200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:32490800-32497800	Weak transcription	Spleen	Spleen
49	chr12:32490800-32498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:32490800-32499800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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