Variant report

Variant	rs10001184
Chromosome Location	chr4:166249023-166249024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:298)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr4:166248313-166249200	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:166247871-166251222	HepG2	liver:	n/a	n/a
3	POU2F2	chr4:166248324-166249278	GM12878	blood:	n/a	n/a
4	MAX	chr4:166248148-166249148	HepG2	liver:	n/a	chr4:166248947-166248957 chr4:166248570-166248580
5	POLR2A	chr4:166247836-166249651	GM19099	blood:	n/a	n/a
6	TCF3	chr4:166248406-166249163	GM12878	blood:	n/a	n/a
7	MXI1	chr4:166248011-166249431	HepG2	liver:	n/a	chr4:166248519-166248534 chr4:166248521-166248536
8	POLR2A	chr4:166247962-166249410	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr4:166248296-166249087	GM12878	blood:	n/a	n/a
10	EP300	chr4:166248376-166249087	GM12878	blood:	n/a	chr4:166249000-166249016 chr4:166248457-166248466
11	POLR2A	chr4:166248273-166249107	GM12891	blood:	n/a	n/a
12	POLR2A	chr4:166248083-166249242	HCT-116	colon:	n/a	n/a
13	SP1	chr4:166248258-166249335	A549	lung:	n/a	chr4:166248822-166248836 chr4:166248605-166248614 chr4:166248765-166248777 chr4:166248569-166248578 chr4:166248604-166248613 chr4:166248757-166248771 chr4:166248567-166248579
14	HDAC2	chr4:166248397-166249139	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:166248340-166249133	A549	lung:	n/a	n/a
16	GATA1	chr4:166248117-166249450	PBDE	blood:	n/a	n/a
17	ELF1	chr4:166248382-166249068	K562	blood:	n/a	chr4:166248608-166248617
18	POLR2A	chr4:166248715-166249096	GM12892	blood:	n/a	n/a
19	HMGN3	chr4:166248275-166249089	K562	blood:	n/a	n/a
20	SIN3AK20	chr4:166248346-166249143	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr4:166247986-166249373	GM19193	blood:	n/a	n/a
22	EGR1	chr4:166247936-166249110	ECC-1	luminal epithelium:	n/a	chr4:166248570-166248583 chr4:166248569-166248584 chr4:166248040-166248054 chr4:166248570-166248583
23	TBP	chr4:166248142-166249131	HepG2	liver:	n/a	n/a
24	BRCA1	chr4:166248437-166249213	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:166247554-166249174	SK-N-SH	brain:	n/a	n/a
26	YY1	chr4:166248301-166249142	ECC-1	luminal epithelium:	n/a	n/a
27	RCOR1	chr4:166248080-166249569	K562	blood:	n/a	n/a
28	POLR2A	chr4:166248346-166249151	GM12878	blood:	n/a	n/a
29	EBF1	chr4:166248272-166249401	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:166246756-166254107	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:166248048-166249482	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr4:166248629-166249158	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr4:166247768-166249353	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:166248672-166249219	K562	blood:	n/a	n/a
35	SIN3AK20	chr4:166248710-166249371	K562	blood:	n/a	n/a
36	PBX3	chr4:166248278-166249295	SK-N-SH	brain:	n/a	n/a
37	CHD2	chr4:166248116-166249243	Hela-S3	cervix:	n/a	n/a
38	ELF1	chr4:166248296-166249285	GM12878	blood:	n/a	chr4:166248608-166248617
39	POLR2A	chr4:166248647-166249120	K562	blood:	n/a	n/a
40	CREB1	chr4:166248301-166249120	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr4:166248373-166249235	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr4:166248080-166249397	K562	blood:	n/a	n/a
43	POLR2A	chr4:166247914-166249608	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr4:166248319-166249208	GM12892	blood:	n/a	n/a
45	MYC	chr4:166247965-166249280	MCF10A-Er-Src	breast:	n/a	chr4:166248947-166248957 chr4:166248570-166248580
46	POLR2A	chr4:166247782-166250685	HepG2	liver:	n/a	n/a
47	ZNF263	chr4:166248261-166250307	HEK293-T-REx	kidney:	n/a	n/a
48	EP300	chr4:166248203-166249243	GM12878	blood:	n/a	chr4:166249000-166249016 chr4:166248457-166248466
49	FOXM1	chr4:166248112-166249107	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:166248304-166249378	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:166249014-166249064	GM06990	blood:	n/a
2	chr4:166249014-166249064	CMK	blood:	n/a
3	chr4:166249014-166249064	ovcar-3	ovarian:	n/a
4	chr4:166249014-166249064	PANC-1	pancreas:	n/a
5	chr4:166249014-166249064	BJ	skin:	n/a
6	chr4:166249014-166249064	SK-N-SH	brain:	n/a
7	chr4:166249014-166249064	T-47D	breast:	n/a
8	chr4:166249014-166249064	SK-N-SH_RA	brain:	n/a
9	chr4:166249014-166249064	HUVEC	blood vessel:	n/a
10	chr4:166249014-166249064	ProgFib	skin:	n/a
11	chr4:166249014-166249064	GM12892	blood:	n/a
12	chr4:166249014-166249064	HCF	heart:	n/a
13	chr4:166249014-166249064	HRCEpiC	kidney:	n/a
14	chr4:166249014-166249064	GM12878	blood:	n/a
15	chr4:166249014-166249064	PrEC	prostate:	n/a
16	chr4:166249014-166249064	SK-N-MC	brain:	n/a
17	chr4:166249014-166249064	NHBE	bronchial:	n/a
18	chr4:166249014-166249064	AG09319	gingival:	n/a
19	chr4:166249014-166249064	K562	blood:	n/a
20	chr4:166249014-166249064	AG09309	skin:	n/a
21	chr4:166249014-166249064	HepG2	liver:	n/a
22	chr4:166249014-166249064	NH-A	brain:	n/a
23	chr4:166249014-166249064	HCT-116	colon:	n/a
24	chr4:166249014-166249064	BE2_C	brain:	n/a
25	chr4:166249014-166249064	MCF10A-Er-Src	breast:	n/a
26	chr4:166249014-166249064	AG10803	skin:	n/a
27	chr4:166249014-166249064	NHDF-neo	bronchial:	n/a
28	chr4:166249014-166249064	HMEC	breast:	n/a
29	chr4:166249014-166249064	SAEC	small airway:	n/a
30	chr4:166249014-166249064	HRPEpiC	eye:	n/a
31	chr4:166249014-166249064	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:166249014-166249064	A549	lung:	n/a
33	chr4:166249014-166249064	AoSMC	blood vessel:	n/a
34	chr4:166249014-166249064	AG04449	skin:	fetal
35	chr4:166249014-166249064	U87	brain:	n/a
36	chr4:166249014-166249064	HL-60	blood:	n/a
37	chr4:166249014-166249064	Jurkat	blood:	n/a
38	chr4:166249014-166249064	GM19239	blood:	n/a
39	chr4:166249014-166249064	NB4	blood:	n/a
40	chr4:166249014-166249064	HEK293	kidney:	embryo
41	chr4:166249014-166249064	HIPEpiC	eye:	n/a
42	chr4:166249014-166249064	AG04450	lung:	fetal
43	chr4:166249014-166249064	ECC-1	luminal epithelium:	n/a
44	chr4:166249014-166249064	HRE	kidney:	n/a
45	chr4:166249014-166249064	HEEpiC	esophagus:	n/a
46	chr4:166249014-166249064	H1-hESC	embryonic stem cell:	embryo
47	chr4:166249014-166249064	Hepatocyte	liver:	n/a
48	chr4:166249014-166249064	GM12891	blood:	n/a
49	chr4:166249014-166249064	Caco-2	colon:	n/a
50	chr4:166249014-166249064	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
2	chr4:166127276..166130366-chr4:166247405..166250443,3	K562	blood:
3	chr4:166033415..166035712-chr4:166248207..166249791,2	MCF-7	breast:
4	chr4:166128531..166130929-chr4:166246215..166249595,5	MCF-7	breast:
5	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:

No data

Variant related genes	Relation type
MSMO1	TF binding region
MSMO1	CpG island
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28441377	0.84[AFR][1000 genomes]
rs7698110	0.91[AFR][1000 genomes]
rs9998426	1.00[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	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3422247	chr4:166247552-166250050	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166247000-166251600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:166247400-166250400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:166247600-166249200	Active TSS	Rectal Smooth Muscle	rectum
4	chr4:166247600-166249200	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr4:166247600-166249200	Active TSS	Stomach Smooth Muscle	stomach
6	chr4:166247600-166249600	Active TSS	Thymus	Thymus
7	chr4:166247600-166249800	Active TSS	A549	lung
8	chr4:166247600-166250000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:166247600-166250400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr4:166247600-166250400	Active TSS	Brain Substantia Nigra	brain
11	chr4:166247600-166250400	Active TSS	Right Atrium	heart
12	chr4:166247600-166251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr4:166247600-166251600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:166247600-166251800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:166247800-166249200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:166247800-166249200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:166247800-166249200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr4:166247800-166249200	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr4:166247800-166249200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:166247800-166249200	Active TSS	Brain Angular Gyrus	brain
21	chr4:166247800-166249200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:166247800-166249200	Active TSS	Fetal Kidney	kidney
23	chr4:166247800-166249200	Active TSS	Fetal Lung	lung
24	chr4:166247800-166249200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr4:166247800-166249200	Active TSS	Right Ventricle	heart
26	chr4:166247800-166249400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:166247800-166249400	Active TSS	Brain Anterior Caudate	brain
28	chr4:166247800-166249400	Active TSS	Brain Cingulate Gyrus	brain
29	chr4:166247800-166249400	Active TSS	Colon Smooth Muscle	Colon
30	chr4:166247800-166249400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:166247800-166249400	Active TSS	Fetal Stomach	stomach
32	chr4:166247800-166249600	Active TSS	Brain Hippocampus Middle	brain
33	chr4:166247800-166249600	ZNF genes & repeats	Fetal Brain Male	brain
34	chr4:166247800-166249800	Active TSS	Liver	Liver
35	chr4:166247800-166249800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr4:166247800-166250000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:166247800-166250000	Active TSS	Psoas Muscle	Psoas
38	chr4:166247800-166250200	Active TSS	Duodenum Mucosa	Duodenum
39	chr4:166247800-166250200	Active TSS	K562	blood
40	chr4:166247800-166250400	Active TSS	Aorta	Aorta
41	chr4:166247800-166250400	Active TSS	Fetal Muscle Trunk	muscle
42	chr4:166247800-166250400	Active TSS	Ovary	ovary
43	chr4:166247800-166250400	Active TSS	HSMM	muscle
44	chr4:166247800-166250600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr4:166247800-166250800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr4:166247800-166251000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:166247800-166251000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:166247800-166251000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr4:166247800-166251000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:166247800-166251000	Active TSS	Fetal Intestine Small	intestine

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