Variant report

Variant	rs59036132
Chromosome Location	chr2:128431068-128431069
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	chr2:128420579..128422835-chr2:128429985..128431797,2	MCF-7	breast:
2	chr2:128430698..128434917-chr2:128457121..128460752,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072163	Chromatin interaction
ENSG00000173349	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11682274	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003004	chr2:128295320-128474326	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1006421	chr2:128299079-128473079	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1004877	chr2:128299079-128479640	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv875015	chr2:128305196-128495645	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv875017	chr2:128330458-128445585	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv875018	chr2:128330458-128465547	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv875020	chr2:128340855-128445585	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv875021	chr2:128340855-128465547	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv470482	chr2:128350808-128465547	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	60 gene(s)	inside rSNPs	diseases
11	nsv875026	chr2:128378563-128445585	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv428726	chr2:128387756-128539894	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv875028	chr2:128387937-128445585	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv875029	chr2:128395498-128465547	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
15	nsv459252	chr2:128398840-128476484	Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
16	nsv583038	chr2:128398840-128476484	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
17	nsv875030	chr2:128399414-128495645	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv875031	chr2:128401091-128445585	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv875032	chr2:128413311-128465267	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128425400-128431400	Weak transcription	Liver	Liver
2	chr2:128429200-128431200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:128429200-128431800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:128429600-128432000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr2:128429800-128431400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
6	chr2:128429800-128431800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:128430000-128431400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr2:128430000-128431600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr2:128430000-128432000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
10	chr2:128430200-128431600	Bivalent Enhancer	Placenta	Placenta
11	chr2:128430200-128431600	Bivalent/Poised TSS	Fetal Stomach	stomach
12	chr2:128430200-128431600	Bivalent Enhancer	HepG2	liver
13	chr2:128430200-128431800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:128430200-128431800	Bivalent/Poised TSS	Colonic Mucosa	Colon
15	chr2:128430400-128431200	Enhancers	HSMM	muscle
16	chr2:128430400-128431400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:128430400-128431400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr2:128430400-128431600	Enhancers	HUVEC	blood vessel
19	chr2:128430400-128433200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
20	chr2:128430400-128433800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:128430600-128431200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr2:128430600-128431600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:128430600-128431800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:128430600-128431800	Weak transcription	A549	lung
25	chr2:128430600-128433400	Active TSS	Gastric	stomach
26	chr2:128430600-128433600	Active TSS	Left Ventricle	heart
27	chr2:128430600-128433600	Active TSS	Rectal Smooth Muscle	rectum
28	chr2:128430600-128433800	Active TSS	Aorta	Aorta
29	chr2:128430600-128433800	Active TSS	Right Atrium	heart
30	chr2:128430800-128431200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:128430800-128431200	Enhancers	HSMMtube	muscle
32	chr2:128430800-128431400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:128430800-128431800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:128430800-128431800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
35	chr2:128430800-128432200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr2:128430800-128432400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:128430800-128433800	Active TSS	Right Ventricle	heart
38	chr2:128431000-128431200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:128431000-128431200	Flanking Active TSS	Lung	lung
40	chr2:128431000-128431200	Enhancers	Ovary	ovary
41	chr2:128431000-128431200	Transcr. at gene 5' and 3'	Spleen	Spleen
42	chr2:128431000-128431400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr2:128431000-128432000	Active TSS	Esophagus	oesophagus
44	chr2:128431000-128432000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
45	chr2:128431000-128432200	Active TSS	Pancreas	Pancrea
46	chr2:128431000-128432200	Active TSS	Psoas Muscle	Psoas
47	chr2:128431000-128432400	Active TSS	Fetal Heart	heart

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