Variant report

Variant	rs12128882
Chromosome Location	chr1:154811435-154811436
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	chr1:154809835..154812338-chr1:154831055..154832627,2	K562	blood:

Variant related genes	Relation type
ENSG00000143603	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11586348	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11588763	0.94[ASN][1000 genomes]
rs12058931	1.00[JPT][hapmap]
rs1218566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1218576	1.00[ASN][1000 genomes]
rs12729486	1.00[JPT][hapmap]
rs12754189	0.94[ASN][1000 genomes]
rs13376333	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13376345	1.00[ASN][1000 genomes]
rs34106427	0.94[ASN][1000 genomes]
rs34292822	0.94[ASN][1000 genomes]
rs34515871	0.94[ASN][1000 genomes]
rs36004974	1.00[ASN][1000 genomes]
rs61150523	1.00[ASN][1000 genomes]
rs6426985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6426986	0.94[ASN][1000 genomes]
rs6426987	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6426988	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6658392	1.00[ASN][1000 genomes]
rs6666258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6666891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6691463	0.94[ASN][1000 genomes]
rs6691945	1.00[ASN][1000 genomes]
rs6704241	1.00[ASN][1000 genomes]
rs6704449	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12128882	ANP32E	cis	parietal	SCAN
rs12128882	SHE	cis	cerebellum	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154803200-154824600	Enhancers	Fetal Brain Male	brain
2	chr1:154805600-154812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:154805600-154816400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:154805800-154813600	Enhancers	Lung	lung
5	chr1:154806200-154818000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:154806800-154817600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:154806800-154817800	Weak transcription	Right Ventricle	heart
8	chr1:154807400-154812000	Weak transcription	Right Atrium	heart
9	chr1:154808400-154817000	Enhancers	Fetal Muscle Trunk	muscle
10	chr1:154808400-154823600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:154808600-154812000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:154808600-154812200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:154808800-154812000	Weak transcription	Left Ventricle	heart
14	chr1:154808800-154812000	Weak transcription	HUVEC	blood vessel
15	chr1:154809200-154812000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:154809200-154812000	Weak transcription	Fetal Lung	lung
17	chr1:154809400-154812000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:154809400-154812400	Enhancers	Psoas Muscle	Psoas
19	chr1:154809600-154812000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:154809800-154812600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr1:154809800-154813600	Enhancers	Fetal Brain Female	brain
22	chr1:154810000-154813600	Enhancers	Spleen	Spleen
23	chr1:154810200-154812800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:154810400-154812000	Genic enhancers	Fetal Stomach	stomach
25	chr1:154810400-154813000	Enhancers	HSMMtube	muscle
26	chr1:154810400-154813600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:154810400-154817800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:154810600-154812800	Weak transcription	Brain Substantia Nigra	brain
29	chr1:154810600-154813600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:154810600-154816200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:154810800-154811800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:154810800-154812000	Weak transcription	HSMM	muscle
33	chr1:154810800-154812400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:154810800-154812400	Genic enhancers	GM12878-XiMat	blood
35	chr1:154811000-154812000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:154811000-154812200	Enhancers	Fetal Kidney	kidney
37	chr1:154811000-154813200	Enhancers	Brain Anterior Caudate	brain
38	chr1:154811200-154812200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:154811200-154812200	Weak transcription	Fetal Thymus	thymus
40	chr1:154811200-154812200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:154811200-154813800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:154811200-154817600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:154811400-154813200	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:154811400-154814400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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