Variant report

Variant	rs7569577
Chromosome Location	chr2:86271976-86271977
allele	A/G
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:5)
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	chr2:86271042-86272154	K562	blood:	n/a	n/a
2	POLR2A	chr2:86271600-86272110	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:86271664-86272128	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:86271927-86272126	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86076023..86078955-chr2:86270919..86273082,2	MCF-7	breast:
2	chr2:86271666..86274392-chr2:86276622..86278866,2	MCF-7	breast:
3	chr2:86271262..86274058-chr2:86286293..86288618,2	K562	blood:
4	chr2:86270899..86273641-chr2:86288128..86290154,3	MCF-7	breast:
5	chr16:3313990..3314691-chr2:86271802..86272302,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
POLR1A	TF binding region
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2278086	0.96[AFR][1000 genomes]
rs2278537	1.00[AFR][1000 genomes]
rs34302587	0.93[AFR][1000 genomes]
rs35093541	0.96[AFR][1000 genomes]
rs36051710	0.96[AFR][1000 genomes]
rs3770086	1.00[AFR][1000 genomes]
rs3770091	1.00[AFR][1000 genomes]
rs56673339	1.00[AFR][1000 genomes]
rs57906735	1.00[AFR][1000 genomes]
rs58403969	1.00[AFR][1000 genomes]
rs58614836	0.89[AFR][1000 genomes]
rs59947468	0.90[AFR][1000 genomes]
rs60719866	0.96[AFR][1000 genomes]
rs60887312	0.83[AFR][1000 genomes]
rs61185790	1.00[AFR][1000 genomes]
rs6547656	1.00[AFR][1000 genomes]
rs6547657	1.00[AFR][1000 genomes]
rs6704777	1.00[AFR][1000 genomes]
rs6708146	1.00[AFR][1000 genomes]
rs6712535	1.00[AFR][1000 genomes]
rs6712576	1.00[AFR][1000 genomes]
rs6724612	0.93[AFR][1000 genomes]
rs6737211	1.00[AFR][1000 genomes]
rs6741815	1.00[AFR][1000 genomes]
rs6741832	1.00[AFR][1000 genomes]
rs6755224	1.00[AFR][1000 genomes]
rs6755246	0.96[AFR][1000 genomes]
rs7557349	1.00[AFR][1000 genomes]
rs7572206	1.00[AFR][1000 genomes]
rs7582484	1.00[AFR][1000 genomes]
rs7599656	1.00[AFR][1000 genomes]
rs7606062	0.93[AFR][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	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86251200-86273200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr2:86251200-86283000	Strong transcription	HepG2	liver
4	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr2:86252600-86276800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:86261200-86272000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:86264000-86281800	Strong transcription	Fetal Brain Female	brain
14	chr2:86264000-86332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:86264200-86275400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:86264400-86279400	Strong transcription	Hela-S3	cervix
17	chr2:86264400-86285400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:86264400-86285400	Strong transcription	A549	lung
19	chr2:86264600-86273800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:86264800-86273000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:86264800-86275400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:86265200-86281600	Strong transcription	HMEC	breast
23	chr2:86265200-86284000	Strong transcription	NHEK	skin
24	chr2:86265200-86330000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:86265400-86282600	Strong transcription	Esophagus	oesophagus
26	chr2:86265400-86285200	Strong transcription	Fetal Intestine Large	intestine
27	chr2:86265400-86289800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:86265400-86289800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:86265600-86272600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:86265600-86273200	Strong transcription	Aorta	Aorta
31	chr2:86265600-86274600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:86265600-86282000	Strong transcription	K562	blood
33	chr2:86265600-86282400	Strong transcription	Brain Germinal Matrix	brain
34	chr2:86265600-86289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:86265800-86274400	Strong transcription	Brain Anterior Caudate	brain
36	chr2:86265800-86276600	Strong transcription	Brain Cingulate Gyrus	brain
37	chr2:86265800-86278600	Weak transcription	Small Intestine	intestine
38	chr2:86265800-86280400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:86265800-86284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:86265800-86305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:86266000-86273000	Strong transcription	Colonic Mucosa	Colon
42	chr2:86266000-86274600	Strong transcription	Brain Angular Gyrus	brain
43	chr2:86266000-86275200	Strong transcription	Colon Smooth Muscle	Colon
44	chr2:86266000-86276600	Strong transcription	Brain Hippocampus Middle	brain
45	chr2:86266000-86278000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr2:86266000-86281800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:86266000-86282600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:86266000-86282800	Strong transcription	Gastric	stomach
49	chr2:86266000-86282800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:86266000-86283800	Strong transcription	Fetal Intestine Small	intestine

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