Variant report

Variant	rs555723568
Chromosome Location	chr4:10459817-10459818
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	UBTF	chr4:10458839-10460197	K562	blood:	n/a	n/a
2	BHLHE40	chr4:10459217-10460106	K562	blood:	n/a	n/a
3	NR2F2	chr4:10459812-10460232	K562	blood:	n/a	n/a
4	ARID3A	chr4:10459741-10459919	K562	blood:	n/a	n/a
5	NR2F2	chr4:10459780-10460276	K562	blood:	n/a	n/a
6	MAX	chr4:10457933-10460233	K562	blood:	n/a	chr4:10458720-10458729 chr4:10459964-10459974
7	CTCF	chr4:10459807-10460063	K562	blood:	n/a	chr4:10459874-10459883
8	HCFC1	chr4:10459508-10460158	K562	blood:	n/a	n/a
9	JUND	chr4:10459488-10460190	K562	blood:	n/a	n/a
10	CTCF	chr4:10459760-10459910	AG04449	skin:	n/a	chr4:10459874-10459883
11	RCOR1	chr4:10458894-10460163	K562	blood:	n/a	n/a
12	MEF2A	chr4:10459589-10459923	K562	blood:	n/a	chr4:10459719-10459733 chr4:10459718-10459733
13	CCNT2	chr4:10459488-10460006	K562	blood:	n/a	chr4:10459969-10459978
14	ELF1	chr4:10459777-10460172	K562	blood:	n/a	chr4:10459967-10459979
15	MAX	chr4:10459741-10460210	K562	blood:	n/a	chr4:10459964-10459974
16	POLR2A	chr4:10457977-10460336	K562	blood:	n/a	n/a
17	E2F6	chr4:10458047-10460188	K562	blood:	n/a	chr4:10458681-10458691 chr4:10459082-10459091 chr4:10459969-10459978 chr4:10458501-10458513 chr4:10459963-10459972 chr4:10458501-10458510 chr4:10459309-10459319 chr4:10459062-10459071 chr4:10458090-10458099 chr4:10459129-10459138 chr4:10458680-10458691
18	POLR2A	chr4:10458768-10460210	K562	blood:	n/a	n/a
19	POLR2A	chr4:10458087-10460407	K562	blood:	n/a	n/a
20	REST	chr4:10459770-10460177	K562	blood:	n/a	chr4:10460030-10460039 chr4:10460026-10460039
21	MAZ	chr4:10458846-10460120	K562	blood:	n/a	chr4:10459964-10459974
22	POLR2A	chr4:10449651-10461479	K562	blood:	n/a	n/a
23	POLR2A	chr4:10458344-10460267	K562	blood:	n/a	n/a
24	EGR1	chr4:10459769-10460103	K562	blood:	n/a	chr4:10459964-10459977 chr4:10459967-10459976 chr4:10459963-10459978 chr4:10459964-10459978 chr4:10459965-10459976 chr4:10459964-10459977 chr4:10459964-10459977 chr4:10459969-10459979 chr4:10459963-10459973 chr4:10459964-10459977 chr4:10459967-10459977

No.	Distal block	Cell Line	Cell type
1	chr4:10186685..10189037-chr4:10459555..10461188,2	K562	blood:
2	chr4:10177971..10181867-chr4:10459708..10464611,4	K562	blood:
3	chr4:10117460..10124392-chr4:10456675..10465032,17	K562	blood:
4	chr4:10114078..10122203-chr4:10455501..10461954,12	K562	blood:

Variant related genes	Relation type
ZNF518B	TF binding region
ENSG00000223086	Chromatin interaction
ENSG00000071127	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
2	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
5	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
6	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
7	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
8	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
9	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
12	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
13	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
14	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
15	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
16	nsv1000177	chr4:10212245-10557776	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv537037	chr4:10212245-10557776	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv829858	chr4:10300236-10492716	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	esv2757921	chr4:10343699-10545800	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	esv2759223	chr4:10343699-10545800	Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv593727	chr4:10397327-10694991	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv517971	chr4:10399068-10893253	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv878694	chr4:10407572-10783606	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	esv1811736	chr4:10454409-10467939	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
25	esv3327627	chr4:10457679-10460227	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
26	esv3524208	chr4:10457904-10460002	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
27	esv3524209	chr4:10457904-10460002	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10457600-10460000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:10458400-10460000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:10458600-10460000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:10459200-10460000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:10459200-10460000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr4:10459200-10460000	Flanking Active TSS	HUVEC	blood vessel
7	chr4:10459200-10460200	Flanking Active TSS	Fetal Heart	heart
8	chr4:10459200-10461600	Flanking Active TSS	K562	blood
9	chr4:10459400-10460000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr4:10459400-10460000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:10459400-10460000	Enhancers	Spleen	Spleen
12	chr4:10459400-10460200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:10459400-10462600	Weak transcription	NHLF	lung
14	chr4:10459600-10460000	Enhancers	Primary B cells from peripheral blood	blood
15	chr4:10459600-10460000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr4:10459600-10460000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr4:10459600-10460000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr4:10459600-10460000	Active TSS	Lung	lung
19	chr4:10459600-10460000	Active TSS	Rectal Smooth Muscle	rectum
20	chr4:10459600-10460000	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr4:10459600-10460200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:10459600-10460200	Bivalent Enhancer	Esophagus	oesophagus
23	chr4:10459600-10460200	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr4:10459600-10460200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr4:10459600-10460400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:10459600-10460400	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr4:10459600-10460400	Bivalent Enhancer	Fetal Thymus	thymus
28	chr4:10459600-10460400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr4:10459600-10462400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:10459600-10462600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:10459600-10462600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr4:10459600-10462600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:10459600-10462600	Weak transcription	Ovary	ovary
34	chr4:10459600-10462600	Weak transcription	HSMMtube	muscle
35	chr4:10459600-10462600	Weak transcription	NH-A	brain
36	chr4:10459600-10462800	Weak transcription	Gastric	stomach
37	chr4:10459800-10460000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr4:10459800-10460000	Bivalent Enhancer	Primary B cells from cord blood	blood
39	chr4:10459800-10460000	Active TSS	Adipose Nuclei	Adipose
40	chr4:10459800-10460000	Enhancers	Psoas Muscle	Psoas
41	chr4:10459800-10460000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
42	chr4:10459800-10460200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr4:10459800-10460200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:10459800-10460200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
45	chr4:10459800-10460200	Enhancers	Left Ventricle	heart
46	chr4:10459800-10460200	Enhancers	Right Ventricle	heart
47	chr4:10459800-10460400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr4:10459800-10460400	Bivalent Enhancer	Placenta	Placenta
49	chr4:10459800-10460800	Enhancers	NHEK	skin
50	chr4:10459800-10462200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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