Variant report

Variant	rs11568846
Chromosome Location	chr4:110833956-110833957
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	FOS	chr4:110833869-110834157	MCF10A-Er-Src	breast:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
2	POLR2A	chr4:110833931-110834132	H1-hESC	embryonic stem cell:	n/a	n/a
3	KAP1	chr4:110833755-110834457	U2OS	brain:	n/a	n/a
4	POLR2A	chr4:110833768-110834242	SK-N-MC	brain:	n/a	n/a
5	ATF1	chr4:110833777-110834221	K562	blood:	n/a	n/a
6	UBTF	chr4:110833865-110834370	K562	blood:	n/a	n/a
7	EP300	chr4:110833859-110834591	K562	blood:	n/a	chr4:110834020-110834029
8	MAFK	chr4:110833845-110834235	K562	blood:	n/a	chr4:110834019-110834029
9	FOS	chr4:110833849-110834069	MCF10A-Er-Src	breast:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
10	ZNF263	chr4:110833690-110834202	HEK293-T-REx	kidney:	n/a	n/a
11	FOS	chr4:110833877-110834171	MCF10A-Er-Src	breast:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
12	TBP	chr4:110833934-110834201	Hela-S3	cervix:	n/a	n/a
13	IRF1	chr4:110833882-110834185	K562	blood:	n/a	chr4:110834135-110834149 chr4:110833986-110834000 chr4:110834041-110834051 chr4:110834131-110834145 chr4:110834039-110834053 chr4:110833936-110833953 chr4:110834129-110834146 chr4:110834042-110834053
14	POLR2A	chr4:110833869-110834192	U87	brain:	n/a	n/a
15	POLR2A	chr4:110833869-110834225	U87	brain:	n/a	n/a
16	POLR2A	chr4:110833942-110834114	MCF-7	breast:	n/a	n/a
17	MAFF	chr4:110833834-110834336	K562	blood:	n/a	n/a
18	JUND	chr4:110833916-110834116	H1-hESC	embryonic stem cell:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
19	RCOR1	chr4:110833860-110834737	K562	blood:	n/a	n/a
20	TBP	chr4:110833825-110834257	K562	blood:	n/a	n/a
21	MAFK	chr4:110833865-110834279	H1-hESC	embryonic stem cell:	n/a	chr4:110834019-110834029
22	BACH1	chr4:110833843-110834246	H1-hESC	embryonic stem cell:	n/a	chr4:110834018-110834032
23	POLR2A	chr4:110833910-110834276	U87	brain:	n/a	n/a
24	POLR2A	chr4:110833667-110834430	SK-N-MC	brain:	n/a	n/a
25	FOS	chr4:110833906-110834146	MCF10A-Er-Src	breast:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
26	MAZ	chr4:110833749-110834205	K562	blood:	n/a	chr4:110834020-110834029
27	JUND	chr4:110833759-110834600	K562	blood:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
28	TEAD4	chr4:110833720-110834665	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:110833944-110833994	Caco-2	colon:	n/a
2	chr4:110833944-110833994	HEK293	kidney:	embryo
3	chr4:110833944-110833994	PANC-1	pancreas:	n/a
4	chr4:110833944-110833994	HL-60	blood:	n/a
5	chr4:110833944-110833994	Hepatocyte	liver:	n/a
6	chr4:110833944-110833994	HCF	heart:	n/a
7	chr4:110833944-110833994	HCPEpiC	choroid plexus:	n/a
8	chr4:110833944-110833994	SAEC	small airway:	n/a
9	chr4:110833944-110833994	CMK	blood:	n/a
10	chr4:110833944-110833994	HAEpiC	amniotic membrane:	n/a
11	chr4:110833944-110833994	NHDF-neo	bronchial:	n/a
12	chr4:110833944-110833994	PrEC	prostate:	n/a
13	chr4:110833944-110833994	NT2-D1	testis:	n/a
14	chr4:110833944-110833994	HPAEpiC	pulmonary alveolar:	n/a
15	chr4:110833944-110833994	HMEC	breast:	n/a
16	chr4:110833944-110833994	HRE	kidney:	n/a
17	chr4:110833944-110833994	NH-A	brain:	n/a
18	chr4:110833944-110833994	HRCEpiC	kidney:	n/a
19	chr4:110833944-110833994	Hela-S3	cervix:	n/a
20	chr4:110833944-110833994	A549	lung:	n/a
21	chr4:110833944-110833994	HRPEpiC	eye:	n/a
22	chr4:110833944-110833994	HUVEC	blood vessel:	n/a
23	chr4:110833944-110833994	MCF10A-Er-Src	breast:	n/a
24	chr4:110833944-110833994	T-47D	breast:	n/a
25	chr4:110833944-110833994	LNCaP	prostate:	n/a
26	chr4:110833944-110833994	SK-N-SH	brain:	n/a
27	chr4:110833944-110833994	BJ	skin:	n/a
28	chr4:110833944-110833994	Jurkat	blood:	n/a
29	chr4:110833944-110833994	HNPCEpiC	eye:	n/a
30	chr4:110833944-110833994	GM12878	blood:	n/a
31	chr4:110833944-110833994	MCF-7	breast:	n/a
32	chr4:110833944-110833994	SKMC	muscle:	n/a
33	chr4:110833944-110833994	BE2_C	brain:	n/a
34	chr4:110833944-110833994	SK-N-SH_RA	brain:	n/a
35	chr4:110833944-110833994	HCT-116	colon:	n/a
36	chr4:110833944-110833994	ProgFib	skin:	n/a
37	chr4:110833944-110833994	AG09309	skin:	n/a
38	chr4:110833944-110833994	GM12892	blood:	n/a
39	chr4:110833944-110833994	AG04449	skin:	fetal
40	chr4:110833944-110833994	HCM	heart:	n/a
41	chr4:110833944-110833994	PFSK-1	brain:	n/a
42	chr4:110833944-110833994	GM19239	blood:	n/a
43	chr4:110833944-110833994	AG10803	skin:	n/a
44	chr4:110833944-110833994	U87	brain:	n/a
45	chr4:110833944-110833994	AG09319	gingival:	n/a
46	chr4:110833944-110833994	AG04450	lung:	fetal
47	chr4:110833944-110833994	AoSMC	blood vessel:	n/a
48	chr4:110833944-110833994	GM06990	blood:	n/a
49	chr4:110833944-110833994	NHBE	bronchial:	n/a
50	chr4:110833944-110833994	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110621463..110624410-chr4:110832783..110835223,2	K562	blood:

Variant related genes	Relation type
EGF	TF binding region
EGF	CpG island
ENSG00000138794	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11568911	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11568957	1.00[YRI][hapmap]
rs11568985	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11568992	0.86[AFR][1000 genomes]
rs2298994	1.00[YRI][hapmap]
rs2298995	1.00[YRI][hapmap]
rs2298998	1.00[YRI][hapmap]
rs41412848	1.00[AMR][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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110825000-110834000	Weak transcription	Psoas Muscle	Psoas
2	chr4:110831600-110834000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:110832800-110834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:110832800-110836200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:110833200-110834000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:110833200-110834000	Enhancers	Fetal Intestine Large	intestine
7	chr4:110833400-110834000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:110833400-110834200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:110833400-110834200	Enhancers	Fetal Heart	heart
10	chr4:110833400-110834600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:110833400-110835600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:110833600-110834000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:110833600-110834000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:110833600-110834000	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:110833600-110834200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:110833600-110834400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:110833600-110834800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr4:110833600-110834800	Flanking Active TSS	K562	blood
19	chr4:110833600-110835200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:110833600-110835400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:110833600-110836000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:110833600-110838000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:110833800-110834000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:110833800-110834000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:110833800-110834000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:110833800-110834000	Enhancers	Fetal Muscle Leg	muscle
27	chr4:110833800-110834000	Enhancers	Pancreas	Pancrea
28	chr4:110833800-110834000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr4:110833800-110834000	Enhancers	A549	lung
30	chr4:110833800-110834000	Enhancers	HSMM	muscle
31	chr4:110833800-110834000	Enhancers	NHLF	lung
32	chr4:110833800-110834200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr4:110833800-110834200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:110833800-110834200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:110833800-110834200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:110833800-110834200	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr4:110833800-110834200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr4:110833800-110834200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr4:110833800-110834200	Enhancers	Lung	lung
40	chr4:110833800-110834200	Active TSS	Stomach Smooth Muscle	stomach
41	chr4:110833800-110834200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr4:110833800-110834400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:110833800-110834400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:110833800-110834400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr4:110833800-110834400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:110833800-110834400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:110833800-110834400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:110833800-110834400	Enhancers	NHEK	skin
49	chr4:110833800-110834400	Flanking Active TSS	Osteobl	bone
50	chr4:110833800-110834600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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