Variant report

Variant	rs11922251
Chromosome Location	chr3:42777863-42777864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:42777580-42777909	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42681634..42683694-chr3:42776062..42778558,2	K562	blood:

Variant related genes	Relation type
CCDC13	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10490794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11718476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11929390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12054446	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12487729	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12491179	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12633707	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12635736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12639142	0.87[CHB][hapmap]
rs13070345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2240859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs339684	0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs339731	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34549959	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3846063	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs3895740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3907218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3912104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3916334	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60706321	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6807878	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7639170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7639483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9830553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9839430	0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42769600-42785600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:42769800-42787600	Weak transcription	Gastric	stomach
3	chr3:42772600-42778200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:42773000-42778400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:42774200-42778200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:42774200-42778200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:42774600-42780800	Weak transcription	Psoas Muscle	Psoas
8	chr3:42774800-42778200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr3:42775200-42778000	Enhancers	Brain Angular Gyrus	brain
10	chr3:42775200-42778200	Enhancers	Brain Substantia Nigra	brain
11	chr3:42775600-42778000	Enhancers	Brain Anterior Caudate	brain
12	chr3:42775600-42778200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:42775600-42778400	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:42775600-42781000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:42775800-42780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:42776400-42778000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:42776800-42778200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:42776800-42787000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:42777000-42778000	Enhancers	HepG2	liver
20	chr3:42777200-42778200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:42777200-42778200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:42777200-42778200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:42777200-42778400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr3:42777400-42778200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:42777400-42778200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:42777400-42778400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:42777400-42778400	Enhancers	Fetal Heart	heart
28	chr3:42777400-42778400	Enhancers	Right Ventricle	heart
29	chr3:42777400-42778400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr3:42777400-42780600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:42777600-42778000	Enhancers	Fetal Muscle Leg	muscle
32	chr3:42777600-42778200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:42777600-42778200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:42777600-42778400	Enhancers	Left Ventricle	heart
35	chr3:42777600-42780600	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:42777800-42778000	Enhancers	Fetal Muscle Trunk	muscle
37	chr3:42777800-42778000	Enhancers	Spleen	Spleen
38	chr3:42777800-42778400	Enhancers	Right Atrium	heart

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