Variant report

Variant	rs72955127
Chromosome Location	chr4:106068155-106068156
allele	C/T
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	CHD1	chr4:106066572-106070456	IMR90	lung:	n/a	chr4:106067048-106067058 chr4:106067469-106067479
2	POLR2A	chr4:106066572-106069408	GM12878	blood:	n/a	n/a
3	TAF1	chr4:106067746-106068345	GM12891	blood:	n/a	n/a
4	POLR2A	chr4:106066699-106068489	GM12878	blood:	n/a	n/a
5	RELA	chr4:106067740-106069354	GM18505	blood:	n/a	n/a
6	RFX5	chr4:106067937-106068156	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:106067049-106068283	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:106067168-106068272	MCF-7	breast:	n/a	n/a
9	SIN3A	chr4:106066695-106069254	H1-hESC	embryonic stem cell:	n/a	chr4:106067015-106067024 chr4:106067017-106067026
10	TBP	chr4:106067858-106068290	HepG2	liver:	n/a	n/a
11	TAF1	chr4:106067671-106068227	K562	blood:	n/a	n/a
12	TAF1	chr4:106067859-106068294	GM12892	blood:	n/a	n/a
13	MXI1	chr4:106066605-106068302	GM12878	blood:	n/a	chr4:106067017-106067026 chr4:106067015-106067024
14	POLR2A	chr4:106067479-106068311	HCT-116	colon:	n/a	n/a
15	POLR2A	chr4:106067551-106068292	K562	blood:	n/a	n/a
16	POLR2A	chr4:106067106-106068263	MCF-7	breast:	n/a	n/a
17	POLR2A	chr4:106066660-106069216	GM19193	blood:	n/a	n/a
18	RELA	chr4:106067740-106069091	GM18951	blood:	n/a	n/a
19	CTCF	chr4:106067485-106068255	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:106067525-106068339	ECC-1	luminal epithelium:	n/a	n/a
21	IRF1	chr4:106067912-106068200	K562	blood:	n/a	n/a
22	MAZ	chr4:106067112-106068401	IMR90	lung:	n/a	chr4:106067921-106067929
23	YY1	chr4:106067497-106068657	H1-hESC	embryonic stem cell:	n/a	chr4:106067872-106067881 chr4:106068051-106068063 chr4:106068045-106068065 chr4:106068277-106068299 chr4:106067679-106067693 chr4:106067934-106067948 chr4:106068288-106068296
24	BHLHE40	chr4:106067213-106068856	K562	blood:	n/a	n/a
25	POLR2A	chr4:106067516-106068301	K562	blood:	n/a	n/a
26	MXI1	chr4:106066891-106068214	HepG2	liver:	n/a	chr4:106067017-106067026 chr4:106067015-106067024
27	MAFK	chr4:106067927-106068585	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr4:106067039-106069118	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:106067513-106068301	SK-N-SH	brain:	n/a	n/a
30	MAZ	chr4:106066515-106068385	GM12878	blood:	n/a	chr4:106067016-106067025 chr4:106067015-106067026 chr4:106067921-106067929 chr4:106067016-106067025 chr4:106067016-106067025 chr4:106067015-106067025 chr4:106067016-106067026
31	YY1	chr4:106067565-106068519	ECC-1	luminal epithelium:	n/a	chr4:106067872-106067881 chr4:106068051-106068063 chr4:106068045-106068065 chr4:106068277-106068299 chr4:106067679-106067693 chr4:106067934-106067948 chr4:106068288-106068296
32	POLR2A	chr4:106067612-106068366	H1-hESC	embryonic stem cell:	n/a	n/a
33	GTF2F1	chr4:106067754-106068302	K562	blood:	n/a	n/a
34	MAX	chr4:106067792-106068173	K562	blood:	n/a	chr4:106067921-106067929
35	TAF1	chr4:106067850-106068399	A549	lung:	n/a	n/a
36	MTA3	chr4:106066370-106069459	GM12878	blood:	n/a	n/a
37	REST	chr4:106067736-106068495	H1-neurons	neurons:	n/a	n/a
38	RCOR1	chr4:106067694-106068547	GM12878	blood:	n/a	n/a
39	REST	chr4:106067919-106068344	A549	lung:	n/a	n/a
40	HA-E2F1	chr4:106066907-106068342	MCF-7	breast:	n/a	chr4:106068153-106068164 chr4:106067959-106067969 chr4:106068156-106068165 chr4:106067558-106067570
41	PML	chr4:106067719-106068275	K562	blood:	n/a	n/a
42	EP300	chr4:106067941-106068903	GM12878	blood:	n/a	chr4:106067947-106067963
43	POLR2A	chr4:106067401-106068914	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr4:106067771-106068221	GM12891	blood:	n/a	n/a
45	POLR2A	chr4:106067570-106068231	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr4:106067568-106068200	HepG2	liver:	n/a	n/a
47	TAF1	chr4:106067640-106068575	ECC-1	luminal epithelium:	n/a	n/a
48	MYBL2	chr4:106067780-106068237	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:106067480-106068246	K562	blood:	n/a	n/a
50	TAF1	chr4:106067441-106068341	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:56707907..56710968-chr4:106067665..106071186,3	MCF-7	breast:
2	chr4:106068073..106070756-chr4:106374614..106376801,2	MCF-7	breast:
3	chr4:106066539..106069010-chr4:106392150..106395317,5	MCF-7	breast:
4	chr4:106066586..106070319-chr4:106392729..106397085,7	MCF-7	breast:
5	chr4:106064811..106067302-chr4:106067349..106069355,2	K562	blood:
6	chr4:105812145..105831361-chr4:106062414..106073665,101	MCF-7	breast:
7	chr17:56708710..56709293-chr4:106067457..106068178,2	HCT-116	colon:
8	chr4:106061142..106064736-chr4:106066504..106068895,4	K562	blood:
9	chr4:105412673..105416504-chr4:106067270..106069613,3	MCF-7	breast:
10	chr17:73518941..73521322-chr4:106066748..106068503,2	MCF-7	breast:
11	chr10:5539087..5542053-chr4:106066148..106068545,2	MCF-7	breast:
12	chr4:106064984..106068563-chr4:106391196..106395238,6	K562	blood:
13	chr4:106022079..106026589-chr4:106064672..106069140,4	MCF-7	breast:
14	chr4:105883010..105897017-chr4:106062943..106072055,55	MCF-7	breast:
15	chr1:151512312..151513161-chr4:106068054..106068951,2	Hela-S3	cervix:
16	chr4:105884036..105898505-chr4:106054854..106072562,138	MCF-7	breast:
17	chr4:106064646..106070521-chr4:106098298..106104512,9	MCF-7	breast:
18	chr4:106057698..106064116-chr4:106066476..106070338,7	K562	blood:
19	chr4:105823235..105830393-chr4:106065333..106069817,8	MCF-7	breast:
20	chr3:31572844..31575028-chr4:106066590..106069409,2	MCF-7	breast:

Variant related genes	Relation type
TET2	TF binding region
ENSG00000168772	Chromatin interaction
ENSG00000248242	Chromatin interaction
ENSG00000248373	Chromatin interaction
ENSG00000251906	Chromatin interaction
ENSG00000251586	Chromatin interaction
ENSG00000178372	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000182173	Chromatin interaction
ENSG00000168769	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000163527	Chromatin interaction
ENSG00000251473	Chromatin interaction
ENSG00000251259	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000073350	Chromatin interaction
ENSG00000138777	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs57520418	1.00[EUR][1000 genomes]
rs57729291	1.00[EUR][1000 genomes]
rs59479204	1.00[EUR][1000 genomes]
rs60382101	1.00[EUR][1000 genomes]
rs6811468	1.00[EUR][1000 genomes]
rs72952305	1.00[EUR][1000 genomes]
rs72952317	1.00[EUR][1000 genomes]
rs72952324	1.00[EUR][1000 genomes]
rs72952331	1.00[EUR][1000 genomes]
rs72952343	1.00[EUR][1000 genomes]
rs72955116	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72955137	1.00[EUR][1000 genomes]
rs72955158	0.90[AFR][1000 genomes]
rs72955180	1.00[EUR][1000 genomes]
rs72955193	1.00[EUR][1000 genomes]
rs72961197	1.00[EUR][1000 genomes]
rs72961199	1.00[EUR][1000 genomes]
rs72963007	1.00[EUR][1000 genomes]
rs72963014	1.00[EUR][1000 genomes]
rs72963031	1.00[EUR][1000 genomes]
rs72963032	1.00[EUR][1000 genomes]
rs72963036	1.00[EUR][1000 genomes]
rs72963038	1.00[EUR][1000 genomes]
rs72963046	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr4:106064800-106071800	Active TSS	GM12878-XiMat	blood
2	chr4:106066200-106070000	Active TSS	Monocytes-CD14+_RO01746	blood
3	chr4:106066200-106070200	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr4:106066200-106070600	Active TSS	Primary monocytes fromperipheralblood	blood
5	chr4:106066200-106070800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:106066400-106069000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:106066400-106069200	Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr4:106066400-106069200	Active TSS	Brain Angular Gyrus	brain
9	chr4:106066600-106069200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:106066600-106069200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:106066600-106069400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr4:106066600-106069400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:106066600-106069400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:106066600-106069400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr4:106066600-106069400	Active TSS	Brain Anterior Caudate	brain
16	chr4:106066600-106069600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:106066600-106069600	Active TSS	Rectal Smooth Muscle	rectum
18	chr4:106066600-106070200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr4:106066600-106070200	Active TSS	Right Atrium	heart
20	chr4:106066600-106070200	Active TSS	NHDF-Ad	bronchial
21	chr4:106066600-106070400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr4:106066600-106070800	Active TSS	Duodenum Mucosa	Duodenum
23	chr4:106066600-106070800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:106066800-106068800	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr4:106066800-106069000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:106066800-106069000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr4:106066800-106069000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:106066800-106069000	Active TSS	Liver	Liver
29	chr4:106066800-106069200	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr4:106066800-106069400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:106066800-106069400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:106066800-106069400	Active TSS	Fetal Lung	lung
33	chr4:106066800-106069400	Active TSS	Left Ventricle	heart
34	chr4:106066800-106069400	Active TSS	Lung	lung
35	chr4:106066800-106069600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:106066800-106069600	Active TSS	Brain Substantia Nigra	brain
37	chr4:106066800-106069600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr4:106066800-106069600	Active TSS	Fetal Intestine Large	intestine
39	chr4:106066800-106069600	Active TSS	Fetal Intestine Small	intestine
40	chr4:106066800-106069600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr4:106066800-106069800	Active TSS	Aorta	Aorta
42	chr4:106066800-106069800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:106066800-106069800	Active TSS	Colon Smooth Muscle	Colon
44	chr4:106066800-106069800	Active TSS	Ovary	ovary
45	chr4:106066800-106069800	Active TSS	Right Ventricle	heart
46	chr4:106066800-106070000	Active TSS	Fetal Kidney	kidney
47	chr4:106066800-106070200	Active TSS	Fetal Stomach	stomach
48	chr4:106066800-106070200	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr4:106066800-106070400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:106066800-106070400	Active TSS	Brain Cingulate Gyrus	brain

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