Variant report

Variant	rs3851634
Chromosome Location	chr12:106812902-106812903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11112977	0.95[ASN][1000 genomes]
rs11112997	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579099	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12581541	0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs12581936	0.95[ASN][1000 genomes]
rs12831519	1.00[ASW][hapmap]
rs17217845	1.00[ASW][hapmap]
rs4964175	0.87[ASW][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];1.00[ASN][1000 genomes]
rs6539267	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3851634	ISCU	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106753000-106815400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:106764000-106821000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:106773000-106828000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:106774400-106834000	Weak transcription	Small Intestine	intestine
5	chr12:106774600-106819000	Weak transcription	Right Ventricle	heart
6	chr12:106776800-106821800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:106779600-106821800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:106783600-106818800	Weak transcription	Fetal Heart	heart
9	chr12:106787000-106830200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:106787600-106856600	Weak transcription	GM12878-XiMat	blood
11	chr12:106787800-106852400	Weak transcription	Gastric	stomach
12	chr12:106787800-106852800	Weak transcription	Pancreas	Pancrea
13	chr12:106788000-106827200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:106789000-106829800	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:106789200-106821400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:106789400-106819000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:106789400-106821800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:106790000-106819000	Weak transcription	Lung	lung
19	chr12:106790400-106821000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:106791800-106817200	Weak transcription	Aorta	Aorta
21	chr12:106791800-106819000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:106791800-106821200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:106792000-106817200	Weak transcription	Esophagus	oesophagus
24	chr12:106792000-106819000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:106792000-106821400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:106792000-106827800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:106800000-106828200	Weak transcription	K562	blood
28	chr12:106800200-106815800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:106802400-106854000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:106803200-106828400	Weak transcription	Fetal Thymus	thymus
31	chr12:106803600-106815000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr12:106804800-106832600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:106806400-106815800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:106806400-106826800	Weak transcription	Spleen	Spleen
35	chr12:106807200-106828000	Weak transcription	Thymus	Thymus
36	chr12:106808200-106813400	Strong transcription	Primary T cells from cord blood	blood
37	chr12:106808600-106819000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr12:106808600-106827800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:106809000-106819000	Weak transcription	Psoas Muscle	Psoas
40	chr12:106809000-106821000	Weak transcription	Primary B cells from cord blood	blood
41	chr12:106809000-106821400	Weak transcription	Dnd41	blood
42	chr12:106809200-106821000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:106809200-106821600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:106809200-106830000	Weak transcription	Fetal Kidney	kidney
45	chr12:106809400-106824000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:106809800-106814400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:106810000-106814200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:106810200-106814400	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:106810600-106821400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:106810600-106823600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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