Variant report

Variant	rs74085166
Chromosome Location	chr12:31859722-31859723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11830639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11831623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11832825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833397	1.00[AMR][1000 genomes]
rs11833865	1.00[AMR][1000 genomes]
rs11834122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835928	1.00[AMR][1000 genomes]
rs35548973	1.00[AMR][1000 genomes]
rs55698487	1.00[AMR][1000 genomes]
rs55702366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55704003	1.00[AMR][1000 genomes]
rs55717538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55749071	1.00[AMR][1000 genomes]
rs56010814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122817	1.00[AMR][1000 genomes]
rs56131645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56224974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56348448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56410922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58644649	1.00[AMR][1000 genomes]
rs58672841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59530163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59834841	1.00[AMR][1000 genomes]
rs59956729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60374609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60557264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60663805	1.00[AMR][1000 genomes]
rs60680259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60942371	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60971872	1.00[AMR][1000 genomes]
rs61373187	1.00[AMR][1000 genomes]
rs61398234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61593882	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085127	1.00[AMR][1000 genomes]
rs74085129	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085131	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085142	1.00[AMR][1000 genomes]
rs74085158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31822600-31862000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:31822600-31874200	Weak transcription	Right Ventricle	heart
3	chr12:31827000-31871800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:31835600-31860200	Weak transcription	Fetal Kidney	kidney
5	chr12:31837200-31860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:31837200-31865000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:31838600-31881000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:31839800-31871800	Weak transcription	Gastric	stomach
9	chr12:31840200-31861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:31841200-31860400	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:31841600-31860200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:31841600-31870000	Weak transcription	Pancreas	Pancrea
13	chr12:31842000-31860200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:31844600-31871800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:31845600-31860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:31846400-31860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:31846400-31860200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:31846400-31862400	Weak transcription	Aorta	Aorta
19	chr12:31846400-31871800	Weak transcription	Lung	lung
20	chr12:31846600-31860200	Weak transcription	Fetal Lung	lung
21	chr12:31847800-31860200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:31847800-31860400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:31848800-31860200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:31849000-31880000	Weak transcription	Psoas Muscle	Psoas
25	chr12:31849200-31860200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:31849600-31860800	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:31850800-31867600	Weak transcription	Brain Substantia Nigra	brain
28	chr12:31851000-31860200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:31851000-31880800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:31851600-31860800	Weak transcription	Liver	Liver
31	chr12:31851600-31863200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:31852800-31860200	Weak transcription	Brain Germinal Matrix	brain
33	chr12:31852800-31861800	Weak transcription	Left Ventricle	heart
34	chr12:31852800-31871000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:31852800-31879600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:31853000-31860000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:31853000-31860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:31853000-31860200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:31853000-31860200	Weak transcription	Primary T cells from cord blood	blood
40	chr12:31853000-31860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:31853000-31860200	Weak transcription	Dnd41	blood
42	chr12:31853000-31867200	Weak transcription	Brain Anterior Caudate	brain
43	chr12:31853200-31860200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:31853400-31860200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr12:31853400-31861800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:31854400-31862200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:31854600-31860200	Weak transcription	Ovary	ovary
48	chr12:31854600-31867400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:31854800-31867600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:31855000-31860200	Weak transcription	Primary B cells from peripheral blood	blood

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