Variant report

Variant	rs551568954
Chromosome Location	chr2:206347415-206347416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv875731	chr2:206346586-206382030	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206342600-206348600	Weak transcription	Fetal Heart	heart
2	chr2:206342800-206347800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:206343000-206347600	Weak transcription	Ovary	ovary
4	chr2:206343600-206347600	Weak transcription	Fetal Lung	lung
5	chr2:206345400-206348000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:206345600-206350400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:206346000-206349800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:206346000-206349800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:206346000-206350000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:206346200-206350000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:206346200-206365200	Weak transcription	Aorta	Aorta
12	chr2:206346400-206348000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:206346600-206347800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:206346600-206349600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:206346800-206349400	Enhancers	Brain Germinal Matrix	brain
16	chr2:206346800-206350200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:206347000-206347800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:206347000-206348200	Enhancers	HSMM	muscle
19	chr2:206347000-206350200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:206347000-206350200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:206347000-206350600	Enhancers	Fetal Muscle Leg	muscle
22	chr2:206347000-206350800	Enhancers	Fetal Stomach	stomach
23	chr2:206347200-206347600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:206347200-206347600	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr2:206347200-206347600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:206347200-206347800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:206347200-206348200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:206347200-206349600	Enhancers	Fetal Brain Male	brain
29	chr2:206347400-206347800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:206347400-206347800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr2:206347400-206348000	Enhancers	Fetal Kidney	kidney
32	chr2:206347400-206348200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:206347400-206348400	Enhancers	HSMMtube	muscle
34	chr2:206347400-206348600	Weak transcription	Brain Anterior Caudate	brain
35	chr2:206347400-206350200	Enhancers	Cortex derived primary cultured neurospheres	brain

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