Variant report

Variant	rs2577178
Chromosome Location	chr2:153400324-153400325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:153399092-153400328	U87	brain:	n/a	n/a
2	POLR2A	chr2:153399228-153400502	IMR90	lung:	n/a	n/a
3	POLR2A	chr2:153400235-153400646	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr2:153400271-153400624	H1-neurons	neurons:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:153386397..153388731-chr2:153398232..153400541,2	K562	blood:
2	chr2:153398875..153400622-chr2:153402509..153405231,2	MCF-7	breast:
3	chr2:153400047..153401814-chr2:153483304..153486097,2	MCF-7	breast:
4	chr2:153398378..153401093-chr2:153404602..153406288,2	K562	blood:
5	chr2:153400216..153402948-chr2:153409947..153412606,2	MCF-7	breast:
6	chr2:153392705..153395187-chr2:153396758..153400553,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270776	TF binding region

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1155778	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1529998	0.95[ASN][1000 genomes]
rs16831263	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2577175	0.95[ASN][1000 genomes]
rs2577177	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2678294	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2678296	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2678298	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2678302	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664594	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56281840	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6709843	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6713711	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6739300	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739557	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72868235	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579511	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
2	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
3	chr2:153392800-153400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:153392800-153401200	Weak transcription	Psoas Muscle	Psoas
5	chr2:153392800-153402800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
7	chr2:153394000-153401400	Weak transcription	Fetal Brain Male	brain
8	chr2:153397600-153400400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:153397600-153400600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:153398000-153402800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:153398000-153406800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:153398200-153400400	Enhancers	HMEC	breast
13	chr2:153398200-153406400	Enhancers	Brain Angular Gyrus	brain
14	chr2:153398400-153400400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:153398400-153400600	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:153398400-153400600	Enhancers	NHDF-Ad	bronchial
17	chr2:153398400-153402400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:153398400-153403400	Enhancers	Ovary	ovary
19	chr2:153398400-153405200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:153398600-153400800	Enhancers	HSMM	muscle
21	chr2:153398600-153402400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:153398600-153404000	Weak transcription	Gastric	stomach
23	chr2:153398800-153400600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:153398800-153400600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:153398800-153400600	Enhancers	NHLF	lung
26	chr2:153398800-153401600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:153398800-153406200	Enhancers	Brain Hippocampus Middle	brain
28	chr2:153399000-153400600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:153399000-153400600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:153399000-153400600	Genic enhancers	NHEK	skin
31	chr2:153399000-153402400	Weak transcription	Lung	lung
32	chr2:153399000-153405200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:153399200-153400400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:153399200-153407800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:153399200-153427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:153399400-153400600	Strong transcription	Adipose Nuclei	Adipose
37	chr2:153399400-153400600	Genic enhancers	HepG2	liver
38	chr2:153399400-153403200	Enhancers	Brain Substantia Nigra	brain
39	chr2:153399400-153414200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:153399400-153427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:153399400-153429600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:153399600-153400400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:153399600-153400400	Enhancers	A549	lung
44	chr2:153399600-153400600	Enhancers	Osteobl	bone
45	chr2:153399600-153401200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153399600-153401600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:153399600-153401800	Enhancers	HUVEC	blood vessel
48	chr2:153399600-153402000	Enhancers	NH-A	brain
49	chr2:153399600-153402400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:153399600-153402800	Weak transcription	Fetal Intestine Small	intestine

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