Variant report

Variant	rs375089554
Chromosome Location	chr4:1206005-1206006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:1205659-1207603	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr4:1205768-1206529	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:1205691-1206689	K562	blood:	n/a	n/a
4	POLR2A	chr4:1205734-1209521	K562	blood:	n/a	n/a
5	POLR2A	chr4:1205837-1206035	K562	blood:	n/a	n/a
6	POLR2A	chr4:1205756-1206636	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:1205756-1209476	HL-60	blood:	n/a	n/a
8	POLR2A	chr4:1205781-1206469	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1206004-1206054	A549	lung:	n/a
2	chr4:1206004-1206054	HL-60	blood:	n/a
3	chr4:1206004-1206054	SKMC	muscle:	n/a
4	chr4:1206004-1206054	HRPEpiC	eye:	n/a
5	chr4:1206004-1206054	HMEC	breast:	n/a
6	chr4:1206004-1206054	AG09319	gingival:	n/a
7	chr4:1206004-1206054	K562	blood:	n/a
8	chr4:1206004-1206054	CMK	blood:	n/a
9	chr4:1206004-1206054	SK-N-SH	brain:	n/a
10	chr4:1206004-1206054	GM19239	blood:	n/a
11	chr4:1206004-1206054	HNPCEpiC	eye:	n/a
12	chr4:1206004-1206054	AG10803	skin:	n/a
13	chr4:1206004-1206054	SK-N-MC	brain:	n/a
14	chr4:1206004-1206054	HIPEpiC	eye:	n/a
15	chr4:1206004-1206054	MCF-7	breast:	n/a
16	chr4:1206004-1206054	PrEC	prostate:	n/a
17	chr4:1206004-1206054	ovcar-3	ovarian:	n/a
18	chr4:1206004-1206054	Hela-S3	cervix:	n/a
19	chr4:1206004-1206054	Caco-2	colon:	n/a
20	chr4:1206004-1206054	NHBE	bronchial:	n/a
21	chr4:1206004-1206054	U87	brain:	n/a
22	chr4:1206004-1206054	PFSK-1	brain:	n/a
23	chr4:1206004-1206054	HepG2	liver:	n/a
24	chr4:1206004-1206054	HPAEpiC	pulmonary alveolar:	n/a
25	chr4:1206004-1206054	AG09309	skin:	n/a
26	chr4:1206004-1206054	NHDF-neo	bronchial:	n/a
27	chr4:1206004-1206054	T-47D	breast:	n/a
28	chr4:1206004-1206054	Jurkat	blood:	n/a
29	chr4:1206004-1206054	LNCaP	prostate:	n/a
30	chr4:1206004-1206054	ECC-1	luminal epithelium:	n/a
31	chr4:1206004-1206054	AG04449	skin:	fetal
32	chr4:1206004-1206054	Hepatocyte	liver:	n/a
33	chr4:1206004-1206054	HAEpiC	amniotic membrane:	n/a
34	chr4:1206004-1206054	MCF10A-Er-Src	breast:	n/a
35	chr4:1206004-1206054	SAEC	small airway:	n/a
36	chr4:1206004-1206054	HCM	heart:	n/a
37	chr4:1206004-1206054	H1-hESC	embryonic stem cell:	embryo
38	chr4:1206004-1206054	AG04450	lung:	fetal
39	chr4:1206004-1206054	HUVEC	blood vessel:	n/a
40	chr4:1206004-1206054	HCPEpiC	choroid plexus:	n/a
41	chr4:1206004-1206054	PANC-1	pancreas:	n/a
42	chr4:1206004-1206054	HRCEpiC	kidney:	n/a
43	chr4:1206004-1206054	HEK293	kidney:	embryo
44	chr4:1206004-1206054	SK-N-SH_RA	brain:	n/a
45	chr4:1206004-1206054	NB4	blood:	n/a
46	chr4:1206004-1206054	HCT-116	colon:	n/a
47	chr4:1206004-1206054	HEEpiC	esophagus:	n/a
48	chr4:1206004-1206054	NH-A	brain:	n/a
49	chr4:1206004-1206054	HRE	kidney:	n/a
50	chr4:1206004-1206054	ProgFib	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1204791..1207603-chr4:1281765..1283856,2	MCF-7	breast:
2	chr4:1198351..1202176-chr4:1203916..1208029,5	K562	blood:
3	chr4:1204863..1206646-chr4:1239464..1241348,2	K562	blood:
4	chr4:1205834..1208746-chr4:1226457..1228401,2	K562	blood:
5	chr4:1199021..1202194-chr4:1205945..1209496,3	K562	blood:
6	chr4:1204218..1206634-chr4:1220495..1222901,2	MCF-7	breast:
7	chr4:1199380..1201260-chr4:1203296..1206173,2	MCF-7	breast:
8	chr4:1203383..1207466-chr4:1208474..1210757,3	K562	blood:

No data

Variant related genes	Relation type
SPON2	TF binding region
SPON2	CpG island
ENSG00000090316	Chromatin interaction
ENSG00000159674	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1194200-1207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:1195200-1214600	Weak transcription	A549	lung
3	chr4:1196400-1209800	Weak transcription	Primary B cells from cord blood	blood
4	chr4:1198000-1211200	Genic enhancers	Fetal Stomach	stomach
5	chr4:1198400-1207000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:1199200-1207600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:1200400-1206200	Enhancers	Ovary	ovary
8	chr4:1200400-1206400	Genic enhancers	Brain Germinal Matrix	brain
9	chr4:1201600-1211600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:1201800-1209000	Strong transcription	Fetal Thymus	thymus
11	chr4:1201800-1210000	Strong transcription	Thymus	Thymus
12	chr4:1202200-1209000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:1202400-1207000	Genic enhancers	Gastric	stomach
14	chr4:1202400-1208000	Genic enhancers	Pancreas	Pancrea
15	chr4:1202400-1210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr4:1202600-1206400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:1202600-1210200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr4:1202800-1210200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:1202800-1218000	Weak transcription	Fetal Brain Male	brain
20	chr4:1203000-1207200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:1203000-1209600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:1203000-1210200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:1203200-1206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:1203200-1217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:1203400-1206200	Weak transcription	HUVEC	blood vessel
26	chr4:1203400-1207400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:1203400-1209200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:1203400-1210200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:1203400-1213000	Weak transcription	Fetal Kidney	kidney
30	chr4:1203600-1206200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:1203600-1206200	Weak transcription	Aorta	Aorta
32	chr4:1203800-1223000	Strong transcription	Osteobl	bone
33	chr4:1204000-1206400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:1204000-1209400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:1204000-1211600	Genic enhancers	Esophagus	oesophagus
36	chr4:1204000-1218000	Weak transcription	K562	blood
37	chr4:1204200-1206400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:1204200-1206800	Genic enhancers	NHLF	lung
39	chr4:1204200-1207000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:1204200-1208000	Strong transcription	Primary T cells from cord blood	blood
41	chr4:1204200-1208400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:1204200-1209200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:1204200-1209200	Strong transcription	Dnd41	blood
44	chr4:1204200-1212600	Genic enhancers	Fetal Muscle Leg	muscle
45	chr4:1204400-1206200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:1204400-1206400	Genic enhancers	Adipose Nuclei	Adipose
47	chr4:1204400-1206600	Genic enhancers	Rectal Smooth Muscle	rectum
48	chr4:1204400-1207200	Strong transcription	HMEC	breast
49	chr4:1204400-1207800	Weak transcription	HSMM	muscle
50	chr4:1204400-1208400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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