Variant report

Variant	rs962991
Chromosome Location	chr2:33735557-33735558
allele	C/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	EP300	chr2:33734628-33735595	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr2:33735363-33735679	SK-N-SH_RA	brain:	n/a	n/a
3	GATA3	chr2:33735398-33735686	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33729626..33732550-chr2:33733058..33735608,2	K562	blood:

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10495792	0.85[CEU][hapmap]

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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33727000-33737000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:33728800-33750800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:33729000-33737400	Enhancers	Brain Substantia Nigra	brain
6	chr2:33729200-33736200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:33729800-33740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:33730000-33751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:33731400-33740200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:33732600-33735600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:33732600-33745800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:33733200-33735600	Enhancers	Fetal Heart	heart
13	chr2:33733400-33736600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:33733800-33736000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:33735000-33735800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:33735400-33735800	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr2:33735400-33735800	Enhancers	Left Ventricle	heart
18	chr2:33735400-33735800	Enhancers	Psoas Muscle	Psoas
19	chr2:33735400-33735800	Enhancers	Right Ventricle	heart
20	chr2:33735400-33735800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:33735400-33736400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:33735400-33736400	Enhancers	NHLF	lung
23	chr2:33735400-33737200	Enhancers	Brain Hippocampus Middle	brain
24	chr2:33735400-33737400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:33735400-33737400	Genic enhancers	GM12878-XiMat	blood
26	chr2:33735400-33743800	Weak transcription	NHDF-Ad	bronchial
27	chr2:33735400-33761800	Weak transcription	Spleen	Spleen

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