Variant report

Variant	rs55840112
Chromosome Location	chr4:174185843-174185844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr4:174185269-174186192	K562	blood:	n/a	n/a
2	RAD21	chr4:174185815-174186110	SK-N-SH_RA	brain:	n/a	n/a
3	TCF12	chr4:174185783-174186098	GM12878	blood:	n/a	n/a
4	TAL1	chr4:174185774-174186199	K562	blood:	n/a	chr4:174185942-174185951
5	MAX	chr4:174185736-174186203	K562	blood:	n/a	n/a
6	KAP1	chr4:174185705-174186390	HEK293	kidney:	n/a	n/a
7	EP300	chr4:174185780-174186225	SK-N-SH_RA	brain:	n/a	n/a
8	MYC	chr4:174185824-174186123	K562	blood:	n/a	n/a
9	RUNX3	chr4:174185572-174186207	GM12878	blood:	n/a	n/a
10	ZNF274	chr4:174185317-174186049	K562	blood:	n/a	n/a
11	TCF12	chr4:174185604-174186452	SK-N-SH	brain:	n/a	n/a
12	TEAD4	chr4:174185709-174186181	K562	blood:	n/a	n/a
13	POLR2A	chr4:174185774-174186223	HL-60	blood:	n/a	n/a
14	MAX	chr4:174185825-174186161	K562	blood:	n/a	n/a
15	NFIC	chr4:174185761-174186280	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr4:174185758-174186120	SK-N-SH	brain:	n/a	n/a
17	MAX	chr4:174185818-174186066	K562	blood:	n/a	n/a
18	EP300	chr4:174185739-174186141	K562	blood:	n/a	n/a
19	JUND	chr4:174185790-174186128	K562	blood:	n/a	n/a
20	TCF12	chr4:174185779-174186126	GM12878	blood:	n/a	n/a
21	NR2F2	chr4:174185803-174186169	K562	blood:	n/a	n/a
22	TRIM28	chr4:174185382-174186166	K562	blood:	n/a	n/a
23	POLR2A	chr4:174185705-174186184	K562	blood:	n/a	n/a
24	REST	chr4:174185822-174186074	K562	blood:	n/a	n/a
25	ELF1	chr4:174185763-174186140	K562	blood:	n/a	n/a
26	ARID3A	chr4:174185423-174186146	K562	blood:	n/a	n/a
27	TEAD4	chr4:174185409-174186267	K562	blood:	n/a	n/a
28	ZNF143	chr4:174185803-174186106	K562	blood:	n/a	chr4:174186018-174186036
29	RCOR1	chr4:174185781-174186179	K562	blood:	n/a	n/a
30	TCF3	chr4:174185788-174186126	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr4:174185754-174186099	PFSK-1	brain:	n/a	n/a
32	PML	chr4:174185697-174186177	K562	blood:	n/a	n/a
33	RCOR1	chr4:174185517-174186293	K562	blood:	n/a	n/a
34	NR2F2	chr4:174185481-174186233	K562	blood:	n/a	n/a
35	BHLHE40	chr4:174185808-174186188	K562	blood:	n/a	n/a
36	RUNX3	chr4:174185739-174186205	GM12878	blood:	n/a	n/a
37	MYC	chr4:174185773-174186157	K562	blood:	n/a	n/a
38	MYC	chr4:174185739-174186181	K562	blood:	n/a	n/a
39	EP300	chr4:174185785-174186248	SK-N-SH_RA	brain:	n/a	n/a
40	POLR2A	chr4:174185835-174186117	K562	blood:	n/a	n/a
41	TCF12	chr4:174185665-174186425	SK-N-SH	brain:	n/a	n/a
42	EBF1	chr4:174185810-174186270	GM12878	blood:	n/a	chr4:174185882-174185891
43	IRF1	chr4:174185671-174186141	K562	blood:	n/a	n/a
44	MXI1	chr4:174185736-174186140	K562	blood:	n/a	n/a
45	PBX3	chr4:174185799-174186346	SK-N-SH	brain:	n/a	n/a
46	TCF3	chr4:174185728-174186206	GM12878	blood:	n/a	n/a
47	NFIC	chr4:174185737-174186380	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr4:174185717-174186256	SK-N-SH	brain:	n/a	n/a
49	TBL1XR1	chr4:174185540-174186122	K562	blood:	n/a	n/a
50	GATA1	chr4:174185236-174186422	PBDE	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174184488..174187723-chr4:174190497..174194400,3	K562	blood:
2	chr4:174183927..174186318-chr4:174195648..174197526,2	K562	blood:
3	chr4:174137352..174140088-chr4:174184722..174187553,2	K562	blood:

No data

Variant related genes	Relation type
MIR548T	TF binding region

rs_ID	r²[population]
rs10520257	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73872512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73872547	0.91[AFR][1000 genomes]
rs73872554	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174159200-174204600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:174159600-174189000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:174164000-174186000	Weak transcription	Aorta	Aorta
4	chr4:174171400-174202600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr4:174173600-174186000	Weak transcription	Esophagus	oesophagus
6	chr4:174173600-174190400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:174173600-174202200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:174174600-174195800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:174177600-174197800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:174179000-174186000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:174179000-174191600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:174179600-174186000	Weak transcription	Right Atrium	heart
13	chr4:174180400-174186000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:174183000-174186000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:174183200-174186600	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:174184600-174186200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:174184600-174186600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:174184600-174186600	Flanking Active TSS	Dnd41	blood
19	chr4:174184600-174186800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:174184800-174186400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:174184800-174186600	Enhancers	Duodenum Mucosa	Duodenum
22	chr4:174184800-174186800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:174185000-174186400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:174185000-174186400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:174185000-174186400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr4:174185000-174186600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr4:174185200-174186000	Flanking Active TSS	K562	blood
28	chr4:174185200-174186200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:174185200-174186200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:174185200-174186400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:174185200-174186600	Enhancers	Fetal Lung	lung
32	chr4:174185400-174186000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr4:174185400-174186200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:174185400-174186200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:174185400-174186200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr4:174185400-174186200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:174185400-174186200	Enhancers	Fetal Heart	heart
38	chr4:174185400-174186200	Flanking Active TSS	GM12878-XiMat	blood
39	chr4:174185400-174186400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr4:174185400-174186400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:174185400-174186400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:174185400-174186400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:174185400-174186400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:174185400-174186400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:174185400-174186400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:174185400-174186400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:174185400-174186400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:174185400-174186400	Enhancers	Brain Anterior Caudate	brain
49	chr4:174185400-174186400	Enhancers	Fetal Intestine Large	intestine
50	chr4:174185400-174186400	Enhancers	Fetal Intestine Small	intestine

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