Variant report

Variant	rs72887091
Chromosome Location	chr2:62899669-62899670
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	TEAD4	chr2:62899658-62900416	SK-N-SH	brain:	n/a	chr2:62900018-62900027 chr2:62899989-62899998
2	RAD21	chr2:62899653-62900208	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr2:62899619-62900344	A549	lung:	n/a	n/a
4	MYBL2	chr2:62899643-62900209	HepG2	liver:	n/a	n/a
5	TEAD4	chr2:62899298-62900548	HepG2	liver:	n/a	chr2:62900018-62900027 chr2:62899989-62899998
6	SP1	chr2:62899584-62900428	A549	lung:	n/a	n/a
7	SP1	chr2:62899659-62900267	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA3	chr2:62899554-62900432	SK-N-SH	brain:	n/a	chr2:62899969-62899979 chr2:62900100-62900110
9	GATA3	chr2:62899656-62900336	SK-N-SH	brain:	n/a	chr2:62899969-62899979 chr2:62900100-62900110
10	TCF12	chr2:62899663-62900407	A549	lung:	n/a	chr2:62900363-62900372
11	GATA3	chr2:62899603-62900410	A549	lung:	n/a	chr2:62899969-62899979 chr2:62900100-62900110
12	TCF12	chr2:62899648-62900398	SK-N-SH	brain:	n/a	chr2:62900363-62900372

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62889688..62892538-chr2:62898649..62900381,2	K562	blood:
2	chr2:62897067..62900392-chr2:62900736..62904878,3	K562	blood:

Variant related genes	Relation type
EHBP1	TF binding region
ENSG00000226622	Chromatin interaction
ENSG00000115504	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2054836	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62890000-62899800	Weak transcription	Right Atrium	heart
2	chr2:62893200-62899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:62896600-62900000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:62897200-62900400	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:62897800-62900400	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:62898000-62901000	Enhancers	Fetal Heart	heart
7	chr2:62898000-62901000	Enhancers	HepG2	liver
8	chr2:62898200-62900000	Enhancers	Right Ventricle	heart
9	chr2:62898200-62900200	Enhancers	Fetal Intestine Small	intestine
10	chr2:62898200-62901000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:62898400-62900400	Enhancers	Adipose Nuclei	Adipose
12	chr2:62898400-62900400	Enhancers	Fetal Stomach	stomach
13	chr2:62898400-62900400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:62898600-62901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:62898800-62899800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:62898800-62899800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:62898800-62899800	Weak transcription	Pancreas	Pancrea
18	chr2:62898800-62900400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:62898800-62900400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:62898800-62900400	Enhancers	Fetal Lung	lung
21	chr2:62898800-62900400	Enhancers	Placenta	Placenta
22	chr2:62898800-62900600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:62898800-62900600	Enhancers	NH-A	brain
24	chr2:62898800-62900800	Enhancers	NHDF-Ad	bronchial
25	chr2:62898800-62901200	Enhancers	HSMM	muscle
26	chr2:62898800-62901600	Enhancers	HSMMtube	muscle
27	chr2:62899000-62900000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:62899000-62900000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:62899000-62900000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:62899000-62900200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:62899000-62900200	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:62899000-62900200	Enhancers	Ovary	ovary
33	chr2:62899000-62900400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:62899000-62900400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:62899000-62900400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:62899000-62900400	Enhancers	Fetal Intestine Large	intestine
37	chr2:62899000-62900600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:62899000-62900600	Enhancers	Osteobl	bone
39	chr2:62899000-62901000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:62899000-62901200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:62899000-62901200	Enhancers	NHLF	lung
42	chr2:62899200-62900000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:62899200-62900000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:62899200-62900400	Enhancers	Fetal Kidney	kidney
45	chr2:62899200-62900600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:62899400-62900000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:62899400-62900200	Enhancers	Colon Smooth Muscle	Colon
48	chr2:62899400-62900400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:62899400-62900400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:62899400-62900400	Enhancers	HUES48 Cell Line	embryonic stem cell

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