Variant report

Variant	rs72909693
Chromosome Location	chr2:39344866-39344867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39332401..39334578-chr2:39342620..39345134,2	K562	blood:
2	chr2:39342488..39346158-chr2:39346528..39349240,5	MCF-7	breast:
3	chr2:39338748..39341346-chr2:39343772..39345520,2	MCF-7	breast:
4	chr2:39331060..39334578-chr2:39342620..39345134,3	K562	blood:

Variant related genes	Relation type
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57866617	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60718983	0.95[ASN][1000 genomes]
rs61392383	1.00[ASN][1000 genomes]
rs61456571	0.80[ASN][1000 genomes]
rs6735371	0.82[AMR][1000 genomes]
rs6755453	0.82[AMR][1000 genomes]
rs72906442	0.82[AMR][1000 genomes]
rs72906449	0.82[AMR][1000 genomes]
rs72906454	0.82[AMR][1000 genomes]
rs72906466	0.87[AMR][1000 genomes]
rs72909647	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72909674	0.81[ASN][1000 genomes]
rs72909679	0.85[ASN][1000 genomes]
rs7559174	0.95[ASN][1000 genomes]
rs7588123	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39294000-39345200	Weak transcription	Fetal Kidney	kidney
2	chr2:39322400-39345200	Weak transcription	Osteobl	bone
3	chr2:39322800-39345200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:39328000-39346800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:39330000-39346800	Weak transcription	Spleen	Spleen
6	chr2:39334200-39345000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:39334600-39345200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:39334600-39345400	Weak transcription	NH-A	brain
9	chr2:39334600-39346000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:39334600-39346800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:39334800-39345200	Weak transcription	HSMMtube	muscle
12	chr2:39334800-39345400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:39334800-39345600	Weak transcription	HSMM	muscle
14	chr2:39335200-39345000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:39335200-39345200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:39335200-39345800	Weak transcription	Brain Substantia Nigra	brain
17	chr2:39335400-39345000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:39335400-39345400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:39335600-39345200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:39335600-39345200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:39335600-39345200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:39336000-39345400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:39337000-39345200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:39337400-39345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:39337800-39345200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:39338000-39345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:39338800-39345000	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:39339800-39345200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:39339800-39345800	Weak transcription	Pancreas	Pancrea
30	chr2:39339800-39346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:39339800-39346800	Weak transcription	Esophagus	oesophagus
32	chr2:39339800-39346800	Weak transcription	Lung	lung
33	chr2:39340000-39345000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:39340000-39345400	Weak transcription	Primary B cells from cord blood	blood
35	chr2:39340000-39345600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:39340000-39345600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:39340000-39345800	Weak transcription	Fetal Thymus	thymus
38	chr2:39340000-39346000	Weak transcription	Placenta	Placenta
39	chr2:39340400-39345200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:39340400-39345200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:39340400-39345200	Weak transcription	HUVEC	blood vessel
42	chr2:39340600-39345800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:39340600-39346000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:39340800-39345200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:39342000-39345600	Weak transcription	Right Atrium	heart
46	chr2:39342200-39345200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:39342200-39345600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:39342400-39345200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:39342400-39346800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:39342800-39345000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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