Variant report

Variant	rs540572452
Chromosome Location	chr4:100495865-100495866
allele	A/C
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	chr4:100495806-100496304	HepG2	liver:	n/a	n/a
2	TAF1	chr4:100495834-100496155	HepG2	liver:	n/a	n/a
3	SP1	chr4:100495638-100496247	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:100495665-100496171	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:100495837-100496207	HepG2	liver:	n/a	n/a
6	FOXA2	chr4:100495728-100496173	HepG2	liver:	n/a	n/a
7	FOXA1	chr4:100495662-100496202	HepG2	liver:	n/a	n/a
8	HNF4A	chr4:100495699-100496153	HepG2	liver:	n/a	chr4:100495926-100495948 chr4:100495931-100495943 chr4:100495898-100495911 chr4:100495898-100495911
9	NFIC	chr4:100495688-100496214	HepG2	liver:	n/a	n/a
10	HDAC2	chr4:100495709-100496105	HepG2	liver:	n/a	n/a
11	FOXA2	chr4:100495563-100496461	HepG2	liver:	n/a	n/a
12	MXI1	chr4:100495832-100496222	HepG2	liver:	n/a	n/a
13	HNF4G	chr4:100495675-100496262	HepG2	liver:	n/a	chr4:100495926-100495948 chr4:100495931-100495943 chr4:100495898-100495911 chr4:100495898-100495911
14	SPI1	chr4:100495827-100496612	GM12878	blood:	n/a	chr4:100496351-100496360
15	HNF4A	chr4:100495731-100496217	HepG2	liver:	n/a	chr4:100495926-100495948 chr4:100495931-100495943 chr4:100495898-100495911 chr4:100495898-100495911
16	CEBPB	chr4:100495821-100496047	HepG2	liver:	n/a	n/a
17	RAD21	chr4:100495819-100496121	HepG2	liver:	n/a	n/a
18	YY1	chr4:100495761-100496161	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBP	chr4:100495794-100496172	HepG2	liver:	n/a	n/a
20	MBD4	chr4:100495703-100496349	HepG2	liver:	n/a	n/a
21	HNF4A	chr4:100495749-100496133	HepG2	liver:	n/a	chr4:100495926-100495948 chr4:100495931-100495943 chr4:100495898-100495911 chr4:100495898-100495911
22	MAZ	chr4:100495785-100496130	HepG2	liver:	n/a	n/a
23	RXRA	chr4:100495738-100496111	HepG2	liver:	n/a	chr4:100495931-100495945
24	HDAC2	chr4:100495705-100496198	HepG2	liver:	n/a	n/a
25	EP300	chr4:100495815-100496501	GM12878	blood:	n/a	n/a
26	ARID3A	chr4:100495701-100496496	HepG2	liver:	n/a	n/a
27	REST	chr4:100495763-100496250	HepG2	liver:	n/a	n/a
28	EP300	chr4:100495855-100496158	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:100495862-100496145	HepG2	liver:	n/a	n/a
30	MYBL2	chr4:100495474-100496594	HepG2	liver:	n/a	n/a
31	E2F4	chr4:100495774-100495957	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXA1	chr4:100495796-100496206	HepG2	liver:	n/a	n/a
33	EP300	chr4:100495667-100496229	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:100495836-100496224	HepG2	liver:	n/a	n/a
35	NR2F2	chr4:100495592-100496362	HepG2	liver:	n/a	n/a
36	HEY1	chr4:100495684-100496359	HepG2	liver:	n/a	n/a
37	ZBTB7A	chr4:100495768-100496180	HepG2	liver:	n/a	n/a
38	NFIC	chr4:100495659-100496373	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr4:100495787-100496211	HepG2	liver:	n/a	n/a
40	NR2F2	chr4:100495716-100496297	HepG2	liver:	n/a	n/a
41	MYBL2	chr4:100495687-100496289	HepG2	liver:	n/a	n/a
42	HNF4G	chr4:100495746-100496149	HepG2	liver:	n/a	chr4:100495926-100495948 chr4:100495931-100495943 chr4:100495898-100495911 chr4:100495898-100495911
43	YY1	chr4:100495862-100496153	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZNF384	chr4:100495620-100496670	GM12878	blood:	n/a	n/a
45	TEAD4	chr4:100495534-100496467	HepG2	liver:	n/a	n/a
46	FOXA1	chr4:100495676-100496242	HepG2	liver:	n/a	n/a
47	EP300	chr4:100495693-100496094	HepG2	liver:	n/a	n/a
48	HEY1	chr4:100495848-100496220	HepG2	liver:	n/a	n/a
49	YY1	chr4:100495762-100496222	HepG2	liver:	n/a	chr4:100496158-100496174
50	POLR2A	chr4:100495759-100496300	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100483825..100487294-chr4:100492777..100496037,4	K562	blood:
2	chr4:100483825..100487771-chr4:100493784..100496037,3	K562	blood:

Variant related genes	Relation type
MTTP	TF binding region
ENSG00000145331	Chromatin interaction
ENSG00000138823	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv1833664	chr4:100495571-100504985	Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100495000-100496400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:100495200-100496000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:100495200-100496000	Flanking Active TSS	HepG2	liver
4	chr4:100495400-100496200	Flanking Active TSS	Liver	Liver
5	chr4:100495400-100497000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:100495600-100496000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:100495600-100496000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:100495600-100497000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:100495600-100497200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:100495600-100500400	Active TSS	Fetal Intestine Large	intestine
11	chr4:100495800-100496000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:100495800-100496000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:100495800-100496200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:100495800-100496200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr4:100495800-100496200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:100495800-100496200	Enhancers	Colon Smooth Muscle	Colon
17	chr4:100495800-100496200	Active TSS	Rectal Smooth Muscle	rectum
18	chr4:100495800-100496200	Enhancers	Stomach Mucosa	stomach
19	chr4:100495800-100496400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:100495800-100496400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:100495800-100496400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr4:100495800-100496400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr4:100495800-100496400	Enhancers	Primary B cells from cord blood	blood
24	chr4:100495800-100496400	Active TSS	Brain Anterior Caudate	brain
25	chr4:100495800-100496400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr4:100495800-100496600	Enhancers	Primary B cells from peripheral blood	blood
27	chr4:100495800-100496600	Active TSS	Aorta	Aorta
28	chr4:100495800-100496600	Active TSS	Ovary	ovary
29	chr4:100495800-100496600	Flanking Active TSS	GM12878-XiMat	blood
30	chr4:100495800-100500400	Active TSS	Fetal Intestine Small	intestine
31	chr4:100495800-100500800	Active TSS	Duodenum Mucosa	Duodenum

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