Variant report

Variant	rs535208989
Chromosome Location	chr4:1209111-1209112
allele	A/G
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	EP300	chr4:1208922-1209837	GM12878	blood:	n/a	chr4:1209068-1209084
2	PAX5	chr4:1209020-1209543	GM12878	blood:	n/a	n/a
3	ZEB1	chr4:1209107-1209882	GM12878	blood:	n/a	chr4:1209683-1209694
4	TCF3	chr4:1208859-1210344	GM12878	blood:	n/a	n/a
5	FOXM1	chr4:1208988-1209803	GM12878	blood:	n/a	n/a
6	CTCF	chr4:1208980-1209130	GM12867	blood:	n/a	n/a
7	CTCF	chr4:1209020-1209170	GM12865	blood:	n/a	n/a
8	EGR1	chr4:1208932-1209567	GM12878	blood:	n/a	chr4:1209071-1209086 chr4:1209249-1209260 chr4:1209247-1209262 chr4:1209072-1209085 chr4:1209245-1209259
9	EGR1	chr4:1208975-1209294	GM12878	blood:	n/a	chr4:1209071-1209086 chr4:1209249-1209260 chr4:1209247-1209262 chr4:1209072-1209085 chr4:1209245-1209259
10	POLR2A	chr4:1208794-1209565	GM12878	blood:	n/a	n/a
11	POU2F2	chr4:1208972-1209651	GM12891	blood:	n/a	n/a
12	POLR2A	chr4:1208842-1209698	GM12891	blood:	n/a	n/a
13	BCLAF1	chr4:1208969-1209695	GM12878	blood:	n/a	chr4:1209624-1209633
14	NFATC1	chr4:1208915-1209677	GM12878	blood:	n/a	n/a
15	RUNX3	chr4:1208852-1210386	GM12878	blood:	n/a	n/a
16	CTCF	chr4:1208980-1209130	HPF	lung:	n/a	n/a
17	TCF12	chr4:1209060-1209872	GM12878	blood:	n/a	n/a
18	YY1	chr4:1209088-1209560	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:1208990-1209360	K562	blood:	n/a	n/a
20	POU2F2	chr4:1208877-1209641	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:1205734-1209521	K562	blood:	n/a	n/a
22	POLR2A	chr4:1208736-1211035	GM12892	blood:	n/a	n/a
23	POLR2A	chr4:1208983-1209460	GM12892	blood:	n/a	n/a
24	MTA3	chr4:1208835-1211238	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:1208925-1209797	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:1208947-1209642	GM12892	blood:	n/a	n/a
27	POLR2A	chr4:1208946-1209930	GM18505	blood:	n/a	n/a
28	TCF12	chr4:1209109-1209870	GM12878	blood:	n/a	n/a
29	ELF1	chr4:1208687-1211263	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:1205756-1209476	HL-60	blood:	n/a	n/a
31	POLR2A	chr4:1208900-1209191	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:1208954-1209638	SK-N-MC	brain:	n/a	n/a
33	CTCF	chr4:1209000-1209150	HCPEpiC	choroid plexus:	n/a	n/a
34	RUNX3	chr4:1208870-1209923	GM12878	blood:	n/a	n/a
35	ATF2	chr4:1208963-1209677	GM12878	blood:	n/a	n/a
36	TCF3	chr4:1208965-1209830	GM12878	blood:	n/a	n/a
37	ELK1	chr4:1209014-1209532	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:1209070-1209686	GM12891	blood:	n/a	n/a
39	PML	chr4:1208882-1209648	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:1208904-1209806	GM12878	blood:	n/a	n/a
41	STAT5A	chr4:1208133-1210564	GM12878	blood:	n/a	chr4:1208594-1208606 chr4:1208965-1208977 chr4:1208374-1208386 chr4:1210396-1210420
42	NR3C1	chr4:1209074-1209540	A549	lung:	n/a	n/a
43	POLR2A	chr4:1208933-1209846	GM12892	blood:	n/a	n/a
44	POLR2A	chr4:1208786-1209534	GM12878	blood:	n/a	n/a
45	PAX5	chr4:1208907-1209712	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:1208835-1211179	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:1209102-1209121	MCF-7	breast:	n/a	n/a

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:

Variant related genes	Relation type
CTBP1	TF binding region
ENSG00000159692	Chromatin interaction
ENSG00000159674	Chromatin interaction
ENSG00000196810	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	chr4:1201800-1210000	Strong transcription	Thymus	Thymus
6	chr4:1202400-1210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:1202600-1210200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:1202800-1210200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:1202800-1218000	Weak transcription	Fetal Brain Male	brain
10	chr4:1203000-1209600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:1203000-1210200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:1203200-1217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:1203400-1209200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:1203400-1210200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:1203400-1213000	Weak transcription	Fetal Kidney	kidney
16	chr4:1203800-1223000	Strong transcription	Osteobl	bone
17	chr4:1204000-1209400	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:1204000-1211600	Genic enhancers	Esophagus	oesophagus
19	chr4:1204000-1218000	Weak transcription	K562	blood
20	chr4:1204200-1209200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:1204200-1209200	Strong transcription	Dnd41	blood
22	chr4:1204200-1212600	Genic enhancers	Fetal Muscle Leg	muscle
23	chr4:1204400-1209200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:1204400-1210000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:1204400-1210400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr4:1204400-1210800	Strong transcription	Fetal Intestine Large	intestine
27	chr4:1204400-1211600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:1204400-1211600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:1204400-1211600	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr4:1204400-1212000	Strong transcription	NHEK	skin
31	chr4:1204400-1227200	Strong transcription	Fetal Intestine Small	intestine
32	chr4:1204400-1235800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:1204600-1210000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:1204600-1210200	Weak transcription	Fetal Heart	heart
35	chr4:1204600-1220400	Strong transcription	Liver	Liver
36	chr4:1204600-1236200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:1204800-1211000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:1204800-1212000	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr4:1204800-1213800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:1204800-1226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:1204800-1237000	Weak transcription	Psoas Muscle	Psoas
42	chr4:1205000-1210000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:1205000-1210200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:1205000-1210600	Weak transcription	Small Intestine	intestine
45	chr4:1205000-1211000	Weak transcription	Right Atrium	heart
46	chr4:1205000-1213400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:1205000-1226200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr4:1205200-1210000	Strong transcription	Right Ventricle	heart
49	chr4:1205200-1210400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:1205200-1211800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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