Variant report

Variant	rs112060964
Chromosome Location	chr4:1208784-1208785
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:1208640-1208790	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr4:1208720-1208870	HBMEC	blood vessel:	n/a	n/a
3	POLR2A	chr4:1205734-1209521	K562	blood:	n/a	n/a
4	POLR2A	chr4:1208736-1211035	GM12892	blood:	n/a	n/a
5	POLR2A	chr4:1208746-1208785	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:1207979-1208881	SK-N-MC	brain:	n/a	n/a
7	ELF1	chr4:1208687-1211263	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:1205756-1209476	HL-60	blood:	n/a	n/a
9	SMC3	chr4:1208741-1208794	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:1207987-1209014	K562	blood:	n/a	n/a
11	STAT5A	chr4:1208133-1210564	GM12878	blood:	n/a	chr4:1208594-1208606 chr4:1208965-1208977 chr4:1208374-1208386 chr4:1210396-1210420

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1208737-1208787	LNCaP	prostate:	n/a
2	chr4:1208737-1208787	AG09319	gingival:	n/a
3	chr4:1208737-1208787	HCT-116	colon:	n/a
4	chr4:1208737-1208787	HRCEpiC	kidney:	n/a
5	chr4:1208737-1208787	AG10803	skin:	n/a
6	chr4:1208737-1208787	PANC-1	pancreas:	n/a
7	chr4:1208737-1208787	Jurkat	blood:	n/a
8	chr4:1208737-1208787	SK-N-SH_RA	brain:	n/a
9	chr4:1208737-1208787	NHDF-neo	bronchial:	n/a
10	chr4:1208737-1208787	BJ	skin:	n/a
11	chr4:1208737-1208787	NT2-D1	testis:	n/a
12	chr4:1208737-1208787	K562	blood:	n/a
13	chr4:1208737-1208787	NHBE	bronchial:	n/a
14	chr4:1208737-1208787	BE2_C	brain:	n/a
15	chr4:1208737-1208787	MCF10A-Er-Src	breast:	n/a
16	chr4:1208737-1208787	SK-N-SH	brain:	n/a
17	chr4:1208737-1208787	HepG2	liver:	n/a
18	chr4:1208737-1208787	HRE	kidney:	n/a
19	chr4:1208737-1208787	HL-60	blood:	n/a
20	chr4:1208737-1208787	AG04450	lung:	fetal
21	chr4:1208737-1208787	HPAEpiC	pulmonary alveolar:	n/a
22	chr4:1208737-1208787	HCF	heart:	n/a
23	chr4:1208737-1208787	HUVEC	blood vessel:	n/a
24	chr4:1208737-1208787	NH-A	brain:	n/a
25	chr4:1208737-1208787	HRPEpiC	eye:	n/a
26	chr4:1208737-1208787	Hepatocyte	liver:	n/a
27	chr4:1208737-1208787	HEEpiC	esophagus:	n/a
28	chr4:1208737-1208787	U87	brain:	n/a
29	chr4:1208737-1208787	SKMC	muscle:	n/a
30	chr4:1208737-1208787	NB4	blood:	n/a
31	chr4:1208737-1208787	HNPCEpiC	eye:	n/a
32	chr4:1208737-1208787	Caco-2	colon:	n/a
33	chr4:1208737-1208787	A549	lung:	n/a
34	chr4:1208737-1208787	GM12878	blood:	n/a
35	chr4:1208737-1208787	PrEC	prostate:	n/a
36	chr4:1208737-1208787	HCM	heart:	n/a
37	chr4:1208737-1208787	AoSMC	blood vessel:	n/a
38	chr4:1208737-1208787	HCPEpiC	choroid plexus:	n/a
39	chr4:1208737-1208787	CMK	blood:	n/a
40	chr4:1208737-1208787	SK-N-MC	brain:	n/a
41	chr4:1208737-1208787	GM12891	blood:	n/a
42	chr4:1208737-1208787	HEK293	kidney:	embryo
43	chr4:1208737-1208787	ProgFib	skin:	n/a
44	chr4:1208737-1208787	SAEC	small airway:	n/a
45	chr4:1208737-1208787	MCF-7	breast:	n/a
46	chr4:1208737-1208787	RPTEC	kidney:	n/a
47	chr4:1208737-1208787	ECC-1	luminal epithelium:	n/a
48	chr4:1208737-1208787	HIPEpiC	eye:	n/a
49	chr4:1208737-1208787	IMR90	lung:	fetal
50	chr4:1208737-1208787	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr4:1207031..1209440-chr4:1241875..1243998,2	K562	blood:
2	chr4:1160724..1161481-chr4:1208619..1209214,2	K562	blood:
3	chr4:1199021..1202194-chr4:1205945..1209496,3	K562	blood:
4	chr4:1203383..1207466-chr4:1208474..1210757,3	K562	blood:
5	chr4:1207031..1209938-chr4:1240960..1243998,4	K562	blood:

No data

Variant related genes	Relation type
CTBP1	TF binding region
CTBP1	CpG island
ENSG00000159674	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
5	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
7	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv593276	chr4:1159680-1227469	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv461151	chr4:1159680-1236840	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv593277	chr4:1159680-1236840	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv878331	chr4:1159680-1254930	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
14	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
15	nsv461153	chr4:1174861-1254930	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
16	nsv593279	chr4:1174861-1254930	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
17	nsv461154	chr4:1179213-1254930	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	nsv593280	chr4:1179213-1254930	Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	nsv878332	chr4:1179213-1254930	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
21	nsv878333	chr4:1193832-1254930	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
24	nsv966246	chr4:1205017-1210824	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
25	esv3436317	chr4:1208602-1211100	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1195200-1214600	Weak transcription	A549	lung
2	chr4:1196400-1209800	Weak transcription	Primary B cells from cord blood	blood
3	chr4:1198000-1211200	Genic enhancers	Fetal Stomach	stomach
4	chr4:1201600-1211600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:1201800-1209000	Strong transcription	Fetal Thymus	thymus
6	chr4:1201800-1210000	Strong transcription	Thymus	Thymus
7	chr4:1202200-1209000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:1202400-1210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:1202600-1210200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:1202800-1210200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr4:1202800-1218000	Weak transcription	Fetal Brain Male	brain
12	chr4:1203000-1209600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:1203000-1210200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:1203200-1217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:1203400-1209200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:1203400-1210200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:1203400-1213000	Weak transcription	Fetal Kidney	kidney
18	chr4:1203800-1223000	Strong transcription	Osteobl	bone
19	chr4:1204000-1209400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:1204000-1211600	Genic enhancers	Esophagus	oesophagus
21	chr4:1204000-1218000	Weak transcription	K562	blood
22	chr4:1204200-1209200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:1204200-1209200	Strong transcription	Dnd41	blood
24	chr4:1204200-1212600	Genic enhancers	Fetal Muscle Leg	muscle
25	chr4:1204400-1209200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:1204400-1210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:1204400-1210400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:1204400-1210800	Strong transcription	Fetal Intestine Large	intestine
29	chr4:1204400-1211600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:1204400-1211600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:1204400-1211600	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr4:1204400-1212000	Strong transcription	NHEK	skin
33	chr4:1204400-1227200	Strong transcription	Fetal Intestine Small	intestine
34	chr4:1204400-1235800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:1204600-1209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:1204600-1209000	Weak transcription	NH-A	brain
37	chr4:1204600-1210000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:1204600-1210200	Weak transcription	Fetal Heart	heart
39	chr4:1204600-1220400	Strong transcription	Liver	Liver
40	chr4:1204600-1236200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:1204800-1211000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:1204800-1212000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr4:1204800-1213800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:1204800-1226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:1204800-1237000	Weak transcription	Psoas Muscle	Psoas
46	chr4:1205000-1208800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr4:1205000-1210000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:1205000-1210200	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:1205000-1210600	Weak transcription	Small Intestine	intestine
50	chr4:1205000-1211000	Weak transcription	Right Atrium	heart

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