Variant report

Variant	rs138232044
Chromosome Location	chr4:57256131-57256132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:57255851-57256315	GM12891	blood:	n/a	n/a
2	POLR2A	chr4:57255836-57256474	GM12892	blood:	n/a	n/a
3	JUN	chr4:57255724-57256155	K562	blood:	n/a	chr4:57255929-57255941 chr4:57255841-57255850
4	CEBPB	chr4:57255701-57256172	K562	blood:	n/a	n/a
5	EP300	chr4:57255676-57256331	K562	blood:	n/a	chr4:57255823-57255833
6	POLR2A	chr4:57255619-57256930	GM12878	blood:	n/a	n/a
7	MYC	chr4:57255665-57256167	K562	blood:	n/a	n/a
8	POLR2A	chr4:57255637-57256676	HL-60	blood:	n/a	n/a
9	POLR2A	chr4:57255571-57257314	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr4:57252843-57257309	H1-hESC	embryonic stem cell:	n/a	n/a
11	IRF1	chr4:57255743-57256295	K562	blood:	n/a	n/a
12	POLR2A	chr4:57253046-57257192	GM12891	blood:	n/a	n/a
13	POLR2A	chr4:57256088-57256523	GM12892	blood:	n/a	n/a
14	RCOR1	chr4:57255688-57256428	K562	blood:	n/a	n/a
15	POLR2A	chr4:57255602-57258077	GM12892	blood:	n/a	n/a
16	POLR2A	chr4:57255548-57256472	PBDE	blood:	n/a	n/a
17	POLR2A	chr4:57255870-57256996	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA1	chr4:57253159-57256476	PBDE	blood:	n/a	chr4:57253785-57253794 chr4:57255968-57255978 chr4:57256193-57256204
19	IRF1	chr4:57255557-57256485	K562	blood:	n/a	n/a
20	ZMIZ1	chr4:57255766-57256139	K562	blood:	n/a	n/a
21	POLR2A	chr4:57255594-57256472	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr4:57255646-57256206	GM12891	blood:	n/a	n/a
23	TBL1XR1	chr4:57255692-57256437	K562	blood:	n/a	n/a
24	POLR2A	chr4:57255214-57257232	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr4:57255657-57256161	K562	blood:	n/a	n/a
26	PML	chr4:57255502-57256262	K562	blood:	n/a	n/a
27	TRIM28	chr4:57255677-57256189	K562	blood:	n/a	n/a
28	POLR2A	chr4:57255613-57256530	PFSK-1	brain:	n/a	n/a
29	TEAD4	chr4:57255603-57256298	K562	blood:	n/a	n/a
30	CEBPB	chr4:57255719-57256158	K562	blood:	n/a	n/a
31	NFYA	chr4:57255823-57256303	K562	blood:	n/a	n/a
32	JUND	chr4:57255716-57256175	K562	blood:	n/a	chr4:57255929-57255941 chr4:57255841-57255850
33	POLR2A	chr4:57255937-57256208	H1-hESC	embryonic stem cell:	n/a	n/a
34	PML	chr4:57255617-57256183	K562	blood:	n/a	n/a
35	POLR2A	chr4:57255706-57256168	K562	blood:	n/a	n/a
36	CEBPD	chr4:57255659-57256249	K562	blood:	n/a	n/a
37	MXI1	chr4:57255581-57256245	K562	blood:	n/a	n/a
38	ATF1	chr4:57255733-57256163	K562	blood:	n/a	n/a
39	POLR2A	chr4:57255716-57256204	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAL1	chr4:57255545-57256599	K562	blood:	n/a	chr4:57255971-57255989
41	CCNT2	chr4:57255715-57256260	K562	blood:	n/a	n/a
42	POLR2A	chr4:57256106-57256703	MCF-7	breast:	n/a	n/a
43	POLR2A	chr4:57255738-57257200	GM12892	blood:	n/a	n/a
44	TBL1XR1	chr4:57255535-57256144	K562	blood:	n/a	n/a
45	POLR2A	chr4:57253107-57259459	K562	blood:	n/a	n/a
46	POLR2A	chr4:57255683-57256464	K562	blood:	n/a	n/a
47	STAT5A	chr4:57255611-57256202	K562	blood:	n/a	chr4:57256063-57256070
48	POLR2A	chr4:57255247-57256478	K562	blood:	n/a	n/a
49	POLR2A	chr4:57255870-57256267	HepG2	liver:	n/a	n/a
50	NR2F2	chr4:57255452-57256202	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:57255720..57258626-chr4:57264661..57268559,4	K562	blood:
2	chr4:57254546..57256143-chr4:57396737..57398873,2	K562	blood:
3	chr4:57250870..57256510-chr4:57298204..57303491,14	K562	blood:
4	chr4:57252113..57256281-chr4:57265528..57268374,5	MCF-7	breast:
5	chr4:57255304..57257966-chr4:57332773..57334646,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAICS-3	chr4:57253640-57259528	NONHSAT096500

No data

Variant related genes	Relation type
AASDH	TF binding region
ENSG00000249693	Chromatin interaction
ENSG00000174780	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000128050	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	esv3328211	chr4:57255941-57256234	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57254200-57273800	Weak transcription	Spleen	Spleen
2	chr4:57254400-57256400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:57254400-57268400	Weak transcription	Lung	lung
4	chr4:57254400-57273600	Weak transcription	Pancreas	Pancrea
5	chr4:57254600-57264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:57254600-57271600	Weak transcription	Ovary	ovary
7	chr4:57254600-57276400	Weak transcription	Psoas Muscle	Psoas
8	chr4:57254600-57280200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:57254800-57256200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:57254800-57260800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:57254800-57261800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:57254800-57262000	Weak transcription	Placenta	Placenta
13	chr4:57254800-57264000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:57254800-57264000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:57254800-57271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:57254800-57273200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:57254800-57275200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:57254800-57275400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:57254800-57276400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:57254800-57276400	Weak transcription	Right Ventricle	heart
21	chr4:57254800-57276600	Weak transcription	Left Ventricle	heart
22	chr4:57254800-57287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:57255000-57256200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:57255000-57256200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr4:57255000-57257800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:57255000-57260400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:57255000-57261200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:57255000-57262200	Weak transcription	A549	lung
29	chr4:57255000-57264400	Weak transcription	Brain Germinal Matrix	brain
30	chr4:57255000-57264800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:57255000-57265600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:57255000-57266000	Weak transcription	Primary B cells from cord blood	blood
33	chr4:57255000-57266200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:57255000-57266200	Weak transcription	NH-A	brain
35	chr4:57255000-57266400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr4:57255000-57266400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:57255000-57266600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:57255000-57266600	Weak transcription	HSMM	muscle
39	chr4:57255000-57266800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:57255000-57269200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:57255000-57271400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:57255200-57256200	Weak transcription	Fetal Intestine Large	intestine
43	chr4:57255200-57257800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:57255200-57257800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:57255200-57257800	Weak transcription	Brain Angular Gyrus	brain
46	chr4:57255200-57258400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:57255200-57259000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:57255200-57262000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:57255200-57262200	Weak transcription	Fetal Lung	lung
50	chr4:57255200-57262200	Weak transcription	Osteobl	bone

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