Variant report

Variant	rs56957809
Chromosome Location	chr2:39316040-39316041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39315515..39317406-chr2:39317636..39319851,2	MCF-7	breast:
2	chr2:39310000..39312340-chr2:39314470..39316453,2	MCF-7	breast:
3	chr2:39311997..39314461-chr2:39315894..39318368,2	K562	blood:
4	chr2:39309418..39311964-chr2:39315804..39318216,2	K562	blood:

Variant related genes	Relation type
ENSG00000206985	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10186842	1.00[AMR][1000 genomes]
rs10199955	0.93[AFR][1000 genomes]
rs13424493	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57359008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61596046	0.89[AFR][1000 genomes]
rs72918710	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39235600-39327800	Weak transcription	Esophagus	oesophagus
2	chr2:39251600-39327200	Weak transcription	HUVEC	blood vessel
3	chr2:39258400-39322400	Weak transcription	Thymus	Thymus
4	chr2:39261000-39318800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:39261000-39327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:39271400-39320400	Weak transcription	Right Ventricle	heart
7	chr2:39280800-39334200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:39282600-39327400	Weak transcription	Hela-S3	cervix
9	chr2:39293600-39322000	Weak transcription	NHDF-Ad	bronchial
10	chr2:39293800-39339400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:39294000-39345200	Weak transcription	Fetal Kidney	kidney
12	chr2:39294200-39322000	Weak transcription	Dnd41	blood
13	chr2:39294400-39322000	Weak transcription	HSMM	muscle
14	chr2:39294600-39320600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:39294600-39320800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:39294600-39339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:39294800-39320400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:39294800-39322000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:39296200-39316800	Weak transcription	HepG2	liver
20	chr2:39296400-39320600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:39296400-39322600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:39296400-39339400	Weak transcription	Aorta	Aorta
23	chr2:39296600-39322200	Weak transcription	NHEK	skin
24	chr2:39297200-39320600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:39297200-39322000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:39297400-39324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:39299600-39318800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:39299600-39319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:39299600-39320600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:39301200-39322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:39305800-39322000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:39307600-39317400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:39307600-39317400	Weak transcription	Fetal Stomach	stomach
34	chr2:39307600-39318200	Weak transcription	Fetal Thymus	thymus
35	chr2:39307600-39319200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:39307600-39320600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:39307600-39324600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:39307600-39333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:39308200-39320400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:39308400-39320400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:39308600-39320800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:39308600-39321800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:39310800-39318800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr2:39311000-39320600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:39311000-39322000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:39311200-39317800	Weak transcription	Primary T cells from cord blood	blood
47	chr2:39311200-39318200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:39311200-39318600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:39311200-39318800	Weak transcription	Right Atrium	heart
50	chr2:39311200-39322000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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