Variant report

Variant	rs2077777
Chromosome Location	chr4:26323918-26323919
allele	C/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	POLR2A	chr4:26320536-26324309	IMR90	lung:	n/a	n/a
2	SIN3A	chr4:26320603-26324322	H1-hESC	embryonic stem cell:	n/a	chr4:26322924-26322935 chr4:26320763-26320772
3	POLR2A	chr4:26320721-26323956	H1-neurons	neurons:	n/a	n/a
4	SIN3AK20	chr4:26323645-26323950	PFSK-1	brain:	n/a	n/a
5	JUN	chr4:26320429-26324200	K562	blood:	n/a	chr4:26320731-26320738 chr4:26323579-26323588 chr4:26321412-26321426 chr4:26320719-26320727 chr4:26320731-26320739
6	POLR2A	chr4:26322937-26324695	U87	brain:	n/a	n/a
7	REST	chr4:26320592-26324055	H1-neurons	neurons:	n/a	chr4:26323177-26323190
8	POLR2A	chr4:26320576-26323982	HL-60	blood:	n/a	n/a
9	RAD21	chr4:26323197-26324238	IMR90	lung:	n/a	n/a
10	MXI1	chr4:26320607-26324274	IMR90	lung:	n/a	n/a
11	RCOR1	chr4:26322972-26323947	K562	blood:	n/a	n/a
12	POLR2A	chr4:26320441-26324027	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr4:26320567-26324109	SK-N-SH	brain:	n/a	n/a
14	CHD1	chr4:26323364-26324122	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:26320699-26323953	H1-neurons	neurons:	n/a	n/a
16	CTCF	chr4:26323820-26323970	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26319239..26325766-chr4:26360124..26364446,7	MCF-7	breast:

Variant related genes	Relation type
RBPJ	TF binding region
ENSG00000168214	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10008046	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs10009355	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10517097	0.85[CHB][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs12651502	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16878322	0.81[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs34295457	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3822223	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs56852953	0.83[EUR][1000 genomes]
rs58429332	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60115690	0.86[EUR][1000 genomes]
rs60730169	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6826838	0.83[EUR][1000 genomes]
rs6847065	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs7657866	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829889	chr4:26169954-26338313	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:26319800-26324800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:26320000-26324200	Active TSS	Hela-S3	cervix
3	chr4:26320200-26324000	Active TSS	A549	lung
4	chr4:26320200-26324400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:26320200-26324800	Active TSS	HSMMtube	muscle
6	chr4:26320200-26325200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:26320200-26326200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:26320400-26324200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:26320400-26324200	Active TSS	Fetal Intestine Large	intestine
10	chr4:26320400-26324400	Active TSS	HSMM	muscle
11	chr4:26320400-26324600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:26320400-26324600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:26320400-26324600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr4:26320400-26324600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:26320400-26324800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:26320400-26324800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:26320400-26325400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr4:26320400-26325400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:26320400-26326000	Active TSS	Fetal Brain Female	brain
20	chr4:26320600-26324000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:26320600-26324000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:26320600-26324000	Active TSS	Aorta	Aorta
23	chr4:26320600-26324000	Active TSS	Fetal Lung	lung
24	chr4:26320600-26324000	Active TSS	Fetal Stomach	stomach
25	chr4:26320600-26324000	Active TSS	Left Ventricle	heart
26	chr4:26320600-26324000	Active TSS	Pancreas	Pancrea
27	chr4:26320600-26324000	Active TSS	Psoas Muscle	Psoas
28	chr4:26320600-26324000	Active TSS	Stomach Mucosa	stomach
29	chr4:26320600-26324200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:26320600-26324200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:26320600-26324200	Active TSS	Brain Angular Gyrus	brain
32	chr4:26320600-26324200	Active TSS	Fetal Kidney	kidney
33	chr4:26320600-26324200	Active TSS	Ovary	ovary
34	chr4:26320600-26324400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr4:26320600-26324400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:26320600-26324400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:26320600-26324400	Active TSS	Brain Anterior Caudate	brain
38	chr4:26320600-26324600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr4:26320600-26324600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:26320600-26324600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:26320600-26324600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr4:26320600-26324600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:26320600-26324600	Active TSS	Right Atrium	heart
44	chr4:26320600-26324800	Active TSS	NHDF-Ad	bronchial
45	chr4:26320600-26325000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr4:26321800-26324200	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr4:26321800-26324400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:26322000-26324400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:26322000-26324800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr4:26322200-26324200	Active TSS	Fetal Muscle Trunk	muscle

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