Variant report

Variant	rs11902693
Chromosome Location	chr2:153320704-153320705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153298852..153300591-chr2:153320312..153322270,2	K562	blood:
2	chr2:153030200..153033527-chr2:153319932..153322243,3	MCF-7	breast:
3	chr2:153302329..153304538-chr2:153320049..153322835,2	MCF-7	breast:
4	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10169514	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10191361	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12471183	0.90[ASN][1000 genomes]
rs1579050	0.90[ASN][1000 genomes]
rs1878632	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346206	0.90[ASN][1000 genomes]
rs3811574	0.90[ASN][1000 genomes]
rs4664586	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55882252	0.90[ASN][1000 genomes]
rs62180804	0.90[ASN][1000 genomes]
rs6434068	0.90[ASN][1000 genomes]
rs6714213	0.90[ASN][1000 genomes]
rs6731738	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6742066	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6744391	0.95[AFR][1000 genomes]
rs6759772	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
2	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
3	chr2:153303400-153322600	Weak transcription	NHLF	lung
4	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:153309400-153321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:153309400-153323600	Enhancers	Brain Angular Gyrus	brain
8	chr2:153311800-153321600	Weak transcription	Lung	lung
9	chr2:153312000-153321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:153313000-153320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:153313000-153321000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:153313000-153321600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:153313000-153322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:153313200-153321200	Weak transcription	A549	lung
15	chr2:153313200-153321600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:153313400-153321200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:153313400-153321400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:153313800-153321000	Weak transcription	NHEK	skin
19	chr2:153314800-153321000	Enhancers	Brain Anterior Caudate	brain
20	chr2:153315200-153321200	Weak transcription	Placenta	Placenta
21	chr2:153317400-153321400	Weak transcription	Aorta	Aorta
22	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
23	chr2:153318000-153321000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:153318400-153327200	Enhancers	HepG2	liver
25	chr2:153318600-153323800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:153318600-153324600	Enhancers	Ovary	ovary
27	chr2:153319000-153321000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:153319200-153321000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:153319200-153325000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:153319400-153321000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:153319400-153321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:153319400-153321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:153319400-153321200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:153319400-153325600	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:153319600-153320800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:153319600-153321200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:153319600-153321200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:153319800-153321000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:153319800-153321400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:153319800-153321600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:153320000-153321000	Enhancers	Brain Hippocampus Middle	brain
42	chr2:153320200-153320800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:153320200-153321400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:153320200-153325600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:153320400-153321200	Enhancers	Adipose Nuclei	Adipose
46	chr2:153320400-153322200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:153320400-153322600	Enhancers	Fetal Kidney	kidney
48	chr2:153320400-153323600	Enhancers	Stomach Smooth Muscle	stomach
49	chr2:153320400-153324600	Enhancers	Fetal Brain Male	brain
50	chr2:153320600-153321200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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