Variant report

Variant	rs9814373
Chromosome Location	chr3:42775053-42775054
allele	C/T
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	chr3:42774979-42775621	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr3:42774370-42775579	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr3:42775011-42775433	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42700054..42702957-chr3:42774515..42776215,2	K562	blood:

Variant related genes	Relation type
CCDC13	TF binding region
ENSG00000114853	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13320636	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13433945	0.82[AFR][1000 genomes]
rs17074768	1.00[AMR][1000 genomes]
rs28508577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28858178	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55914160	0.82[AFR][1000 genomes]
rs56951149	0.89[AFR][1000 genomes]
rs57373619	0.86[AFR][1000 genomes]
rs57865869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9811777	0.86[AFR][1000 genomes]
rs9825860	0.86[AFR][1000 genomes]
rs9831582	0.82[AFR][1000 genomes]
rs9836850	0.82[AFR][1000 genomes]
rs9837432	0.82[AFR][1000 genomes]
rs9851176	1.00[AMR][1000 genomes]
rs9855749	0.82[AFR][1000 genomes]
rs9877459	0.82[AFR][1000 genomes]
rs9877691	1.00[AMR][1000 genomes]
rs9879906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9881713	0.82[AFR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42768600-42776000	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr3:42769600-42785600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:42769800-42787600	Weak transcription	Gastric	stomach
4	chr3:42770600-42775600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:42771200-42775800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:42772600-42777600	Weak transcription	Left Ventricle	heart
7	chr3:42772600-42778200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:42773000-42778400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:42773200-42776800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:42773600-42775200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:42773600-42775600	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr3:42773600-42776400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:42773800-42775400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:42773800-42775400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:42773800-42775600	Enhancers	Brain Germinal Matrix	brain
16	chr3:42773800-42776600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:42773800-42776800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:42773800-42777600	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:42774000-42775200	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr3:42774000-42775400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:42774000-42776400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:42774000-42776400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:42774000-42777400	Weak transcription	Right Ventricle	heart
24	chr3:42774200-42775600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:42774200-42775600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:42774200-42777800	Weak transcription	Right Atrium	heart
27	chr3:42774200-42778200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:42774200-42778200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:42774400-42775400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:42774400-42775600	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr3:42774400-42776000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr3:42774400-42776000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:42774600-42775200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:42774600-42780800	Weak transcription	Psoas Muscle	Psoas
35	chr3:42774800-42775200	Weak transcription	Brain Angular Gyrus	brain
36	chr3:42774800-42775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:42774800-42776600	Enhancers	HepG2	liver
38	chr3:42774800-42777400	Weak transcription	Fetal Heart	heart
39	chr3:42774800-42778200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr3:42775000-42775200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr3:42775000-42775800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:42775000-42777400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:42775000-42777600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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