Variant report

Variant	rs567607235
Chromosome Location	chr2:39346340-39346341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:38976752..38978404-chr2:39344867..39346987,2	K562	blood:
2	chr2:39319265..39325749-chr2:39345590..39349573,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225900	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1008198	chr2:39271472-39364035	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	esv3495561	chr2:39346298-39349296	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
16	esv3495562	chr2:39346298-39349296	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39328000-39346800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:39330000-39346800	Weak transcription	Spleen	Spleen
3	chr2:39334600-39346800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:39339800-39346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:39339800-39346800	Weak transcription	Esophagus	oesophagus
6	chr2:39339800-39346800	Weak transcription	Lung	lung
7	chr2:39342400-39346800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:39343000-39346800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:39344400-39348600	Active TSS	GM12878-XiMat	blood
10	chr2:39345000-39347200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:39345000-39347200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:39345000-39347200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:39345000-39347200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:39345200-39346400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr2:39345200-39346400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:39345200-39346400	Flanking Active TSS	Fetal Heart	heart
17	chr2:39345200-39346800	Flanking Active TSS	Fetal Brain Female	brain
18	chr2:39345200-39347400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr2:39345200-39348800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:39345400-39346400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:39345400-39346400	Flanking Active TSS	HUVEC	blood vessel
22	chr2:39345400-39346600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:39345400-39347200	Flanking Active TSS	Dnd41	blood
24	chr2:39345400-39348800	Active TSS	Ovary	ovary
25	chr2:39345400-39349200	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:39345600-39346400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:39345600-39346400	Flanking Active TSS	Liver	Liver
28	chr2:39345600-39346400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:39345600-39346600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr2:39345600-39346600	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr2:39345600-39346600	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr2:39345600-39346600	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr2:39345600-39346800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:39345600-39346800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr2:39345600-39347600	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr2:39345600-39347600	Active TSS	Right Atrium	heart
37	chr2:39345600-39348400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:39345600-39348600	Active TSS	Aorta	Aorta
39	chr2:39345800-39346400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:39345800-39346400	Enhancers	Brain Substantia Nigra	brain
41	chr2:39345800-39346400	Flanking Active TSS	Fetal Kidney	kidney
42	chr2:39345800-39346400	Flanking Active TSS	NH-A	brain
43	chr2:39345800-39346800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:39345800-39347200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr2:39345800-39347400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr2:39345800-39347400	Active TSS	Fetal Brain Male	brain
47	chr2:39345800-39348600	Active TSS	Left Ventricle	heart
48	chr2:39345800-39348600	Active TSS	K562	blood
49	chr2:39345800-39348800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:39345800-39348800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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