Variant report

Variant	rs11899341
Chromosome Location	chr2:62685481-62685482
allele	A/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	MAX	chr2:62683431-62685939	A549	lung:	n/a	chr2:62683801-62683810 chr2:62683937-62683946 chr2:62683802-62683809 chr2:62684029-62684039 chr2:62683980-62683991 chr2:62683792-62683808 chr2:62683801-62683811
2	RAD21	chr2:62683632-62685550	SK-N-SH	brain:	n/a	chr2:62684246-62684260 chr2:62684248-62684261 chr2:62684783-62684795 chr2:62684245-62684264
3	MXI1	chr2:62683454-62685502	IMR90	lung:	n/a	chr2:62684020-62684035
4	POLR2A	chr2:62685392-62685481	MCF-7	breast:	n/a	n/a
5	MAX	chr2:62683539-62685802	HCT-116	colon:	n/a	chr2:62683801-62683810 chr2:62683937-62683946 chr2:62683802-62683809 chr2:62684029-62684039 chr2:62683980-62683991 chr2:62683792-62683808 chr2:62683801-62683811
6	SMC3	chr2:62683492-62686759	SK-N-SH	brain:	n/a	chr2:62684734-62684742 chr2:62684246-62684260
7	MAX	chr2:62685406-62685763	K562	blood:	n/a	n/a
8	RAD21	chr2:62683643-62685554	HCT-116	colon:	n/a	chr2:62684246-62684260 chr2:62684248-62684261 chr2:62684783-62684795 chr2:62684245-62684264

No.	Distal block	Cell Line	Cell type
1	chr2:62683381..62685759-chr2:62951990..62953956,2	MCF-7	breast:
2	chr2:62115620..62117334-chr2:62684755..62687399,2	K562	blood:
3	chr2:62684117..62686677-chr2:62932616..62934937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228541	TF binding region
ENSG00000115504	Chromatin interaction
ENSG00000252436	Chromatin interaction
ENSG00000115484	Chromatin interaction
ENSG00000173163	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34096290	0.99[ASN][1000 genomes]
rs34784181	0.96[EUR][1000 genomes]
rs7581180	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874231	chr2:62159728-62688792	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62683800-62686000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:62683800-62686600	Enhancers	Placenta	Placenta
3	chr2:62684600-62686000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:62684600-62686000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:62684600-62686000	Enhancers	Lung	lung
6	chr2:62684600-62686400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:62684600-62687200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:62684600-62687800	Weak transcription	Gastric	stomach
9	chr2:62684800-62685600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:62684800-62685600	Enhancers	Ovary	ovary
11	chr2:62684800-62685600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:62684800-62685600	Weak transcription	HSMMtube	muscle
13	chr2:62684800-62685800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr2:62684800-62685800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:62684800-62686400	Enhancers	NHLF	lung
16	chr2:62684800-62686600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:62684800-62686600	Enhancers	Esophagus	oesophagus
18	chr2:62684800-62686600	Enhancers	Fetal Brain Male	brain
19	chr2:62684800-62686600	Enhancers	Fetal Lung	lung
20	chr2:62684800-62686600	Weak transcription	Thymus	Thymus
21	chr2:62684800-62686600	Enhancers	NHDF-Ad	bronchial
22	chr2:62684800-62687000	Enhancers	Fetal Stomach	stomach
23	chr2:62684800-62687200	Enhancers	Fetal Muscle Leg	muscle
24	chr2:62684800-62687600	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:62684800-62688600	Weak transcription	Osteobl	bone
26	chr2:62684800-62689000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:62684800-62689200	Enhancers	Liver	Liver
28	chr2:62684800-62689800	Weak transcription	Fetal Intestine Large	intestine
29	chr2:62684800-62693600	Weak transcription	Right Atrium	heart
30	chr2:62684800-62700800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:62685000-62685600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr2:62685000-62685600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr2:62685000-62685800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:62685000-62685800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:62685000-62686000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:62685000-62686000	Enhancers	HMEC	breast
37	chr2:62685000-62686200	Enhancers	Adipose Nuclei	Adipose
38	chr2:62685000-62686400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:62685000-62686600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:62685000-62686600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:62685000-62687200	Weak transcription	Fetal Brain Female	brain
42	chr2:62685000-62688800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:62685000-62688800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:62685000-62688800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:62685000-62688800	Weak transcription	Pancreas	Pancrea
46	chr2:62685000-62689000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:62685000-62691200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:62685000-62694600	Enhancers	HepG2	liver
49	chr2:62685000-62696600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr2:62685200-62685600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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