Variant report

Variant	rs113900846
Chromosome Location	chr5:60627194-60627195
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	REST	chr5:60625830-60631210	H1-neurons	neurons:	n/a	chr5:60629395-60629408 chr5:60626655-60626668
2	POLR2A	chr5:60626174-60628500	HUVEC	blood vessel:	n/a	n/a
3	TCF7L2	chr5:60626088-60628038	Hela-S3	cervix:	n/a	chr5:60627651-60627660 chr5:60627648-60627662
4	EGR1	chr5:60626645-60628399	HCT-116	colon:	n/a	chr5:60627829-60627842 chr5:60627897-60627910 chr5:60627017-60627027 chr5:60627829-60627842 chr5:60627014-60627027 chr5:60627833-60627843 chr5:60627830-60627841 chr5:60628067-60628076 chr5:60627895-60627905 chr5:60627091-60627104 chr5:60627767-60627777 chr5:60627828-60627843 chr5:60627829-60627839 chr5:60627605-60627619 chr5:60627829-60627842 chr5:60628183-60628197 chr5:60628162-60628176 chr5:60627551-60627561 chr5:60627828-60627842 chr5:60627017-60627026 chr5:60627830-60627839 chr5:60627829-60627842
5	HA-E2F1	chr5:60626203-60627569	MCF-7	breast:	n/a	chr5:60626897-60626911 chr5:60626705-60626715 chr5:60627410-60627419
6	SIN3A	chr5:60626679-60627228	GM12878	blood:	n/a	chr5:60626902-60626913 chr5:60626851-60626862 chr5:60626759-60626770
7	TAF1	chr5:60627103-60627558	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:60627188-60628497	MCF-7	breast:	n/a	n/a
9	YY1	chr5:60627179-60627765	ECC-1	luminal epithelium:	n/a	chr5:60627408-60627422 chr5:60627543-60627557
10	TFAP2A	chr5:60626263-60627697	Hela-S3	cervix:	n/a	chr5:60627504-60627516 chr5:60626884-60626896 chr5:60627076-60627084 chr5:60626699-60626711 chr5:60627075-60627087 chr5:60626699-60626711
11	HA-E2F1	chr5:60626524-60628476	Hela-S3	cervix:	n/a	chr5:60626897-60626911 chr5:60627896-60627905 chr5:60627828-60627837 chr5:60626705-60626715 chr5:60627410-60627419
12	SMC3	chr5:60626784-60627263	GM12878	blood:	n/a	chr5:60626856-60626870 chr5:60626837-60626847 chr5:60626859-60626869
13	TCF12	chr5:60626122-60628395	ECC-1	luminal epithelium:	n/a	chr5:60627382-60627392
14	TAF1	chr5:60627152-60627679	ECC-1	luminal epithelium:	n/a	n/a
15	SRF	chr5:60626025-60628448	HCT-116	colon:	n/a	chr5:60627972-60627986 chr5:60627990-60628005 chr5:60627970-60627988 chr5:60627972-60627990 chr5:60627974-60627987 chr5:60627971-60627989 chr5:60627550-60627560 chr5:60627975-60627992 chr5:60627985-60627995 chr5:60627972-60627989
16	MAX	chr5:60626103-60628180	SK-N-SH	brain:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
17	NFIC	chr5:60626214-60628196	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr5:60626434-60628244	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr5:60625558-60630285	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr5:60626942-60628053	GM12878	blood:	n/a	chr5:60627826-60627836
21	CHD2	chr5:60626205-60628374	Hela-S3	cervix:	n/a	chr5:60627826-60627836
22	MAFK	chr5:60625724-60627683	Hela-S3	cervix:	n/a	chr5:60626128-60626143
23	CTCF	chr5:60627160-60627310	Caco-2	colon:	n/a	n/a
24	GATA2	chr5:60626135-60627649	SH-SY5Y	brain:	n/a	n/a
25	ESRRA	chr5:60627006-60628359	GM12878	blood:	n/a	chr5:60627515-60627528
26	POLR2A	chr5:60625341-60628382	HUVEC	blood vessel:	n/a	n/a
27	SIN3AK20	chr5:60626759-60628241	MCF-7	breast:	n/a	n/a
28	CEBPB	chr5:60626320-60627640	Hela-S3	cervix:	n/a	n/a
29	TEAD4	chr5:60626745-60627203	ECC-1	luminal epithelium:	n/a	n/a
30	ZBTB7A	chr5:60626853-60627965	ECC-1	luminal epithelium:	n/a	chr5:60627695-60627704
31	MAX	chr5:60627113-60627667	H1-hESC	embryonic stem cell:	n/a	chr5:60627550-60627560 chr5:60627234-60627243
32	POLR2A	chr5:60627144-60628506	K562	blood:	n/a	n/a
33	CTCF	chr5:60627176-60627230	GM20000	blood:	n/a	n/a
34	BACH1	chr5:60626449-60628467	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF143	chr5:60626657-60628485	GM12878	blood:	n/a	chr5:60626705-60626715 chr5:60626942-60626960 chr5:60626767-60626777
36	TAF1	chr5:60627075-60627708	SK-N-SH	brain:	n/a	n/a
37	EGR1	chr5:60627156-60628389	HCT-116	colon:	n/a	chr5:60627829-60627842 chr5:60627897-60627910 chr5:60627829-60627842 chr5:60627833-60627843 chr5:60627830-60627841 chr5:60628067-60628076 chr5:60627895-60627905 chr5:60627767-60627777 chr5:60627828-60627843 chr5:60627829-60627839 chr5:60627605-60627619 chr5:60627829-60627842 chr5:60628183-60628197 chr5:60628162-60628176 chr5:60627551-60627561 chr5:60627828-60627842 chr5:60627830-60627839 chr5:60627829-60627842
38	POLR2A	chr5:60625918-60628469	HUVEC	blood vessel:	n/a	n/a
39	TFAP2C	chr5:60626127-60627712	Hela-S3	cervix:	n/a	chr5:60627488-60627503
40	MXI1	chr5:60625150-60628551	IMR90	lung:	n/a	n/a
41	POLR2A	chr5:60627097-60627703	U87	brain:	n/a	n/a
42	MAZ	chr5:60626937-60628547	K562	blood:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
43	CTCF	chr5:60627112-60627204	MCF-7	breast:	n/a	n/a
44	MAZ	chr5:60626233-60628172	GM12878	blood:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
45	CHD2	chr5:60627083-60627249	HepG2	liver:	n/a	n/a
46	TEAD4	chr5:60626429-60628270	ECC-1	luminal epithelium:	n/a	n/a
47	NR2F2	chr5:60626581-60628290	MCF-7	breast:	n/a	n/a
48	POLR2A	chr5:60626250-60628305	HEK293	kidney:	n/a	n/a
49	MAX	chr5:60626388-60628312	HepG2	liver:	n/a	chr5:60627550-60627560 chr5:60627234-60627243 chr5:60627832-60627842
50	SIN3AK20	chr5:60626643-60628254	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:60626862..60630406-chr5:60642263..60646074,4	MCF-7	breast:
2	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
3	chr5:60463053..60463874-chr5:60626475..60627223,2	MCF-7	breast:
4	chr5:60454193..60465680-chr5:60622262..60629761,38	MCF-7	breast:
5	chr5:60456578..60458142-chr5:60626719..60629470,2	K562	blood:
6	chr1:115052362..115054951-chr5:60627006..60628857,2	MCF-7	breast:
7	chr5:60626139..60628076-chr5:60895124..60897725,2	MCF-7	breast:
8	chr5:59993591..59996148-chr5:60625919..60628980,4	K562	blood:
9	chr5:60469553..60471380-chr5:60625380..60627759,2	MCF-7	breast:
10	chr5:60546830..60548400-chr5:60625408..60627597,2	MCF-7	breast:
11	chr5:60458072..60458957-chr5:60626924..60627633,2	MCF-7	breast:
12	chr12:8088332..8089205-chr5:60627015..60627897,2	NB4	blood:
13	chr5:60554941..60557365-chr5:60625053..60627690,3	MCF-7	breast:
14	chr5:60626093..60627678-chr5:60926976..60929648,2	MCF-7	breast:
15	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:

Variant related genes	Relation type
ZSWIM6	TF binding region
ENSG00000059804	Chromatin interaction
ENSG00000035499	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000251682	Chromatin interaction
ENSG00000197323	Chromatin interaction
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv19714	chr5:60625377-60629756	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3471610	chr5:60625845-60630243	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv3471611	chr5:60625845-60630243	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv3502265	chr5:60626270-60630343	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv3502266	chr5:60626270-60630343	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	esv3468477	chr5:60626820-60630568	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv3468478	chr5:60626820-60630568	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	esv1796166	chr5:60626957-60628125	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	esv1799147	chr5:60626957-60628125	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv598315	chr5:60626957-60629111	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	esv1835364	chr5:60626957-60629438	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	esv1850817	chr5:60626957-60629438	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv598316	chr5:60626957-60629438	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	esv1797558	chr5:60626957-60629599	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	esv1802877	chr5:60626957-60629599	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	esv1803463	chr5:60626957-60629599	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	esv1809809	chr5:60626957-60629599	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
21	esv1814309	chr5:60626957-60629599	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	esv1822742	chr5:60626957-60629599	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	esv1838505	chr5:60626957-60629599	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
24	esv1844705	chr5:60626957-60629599	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv598317	chr5:60626957-60629599	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
26	nsv598318	chr5:60626957-60629903	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
27	nsv598319	chr5:60626957-60636828	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
28	esv1799880	chr5:60627059-60629268	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
29	esv1838758	chr5:60627059-60629268	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60625200-60630800	Active TSS	Colonic Mucosa	Colon
2	chr5:60625400-60631000	Active TSS	Brain Hippocampus Middle	brain
3	chr5:60625600-60630600	Active TSS	Colon Smooth Muscle	Colon
4	chr5:60625600-60630800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:60625600-60630800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:60625600-60631000	Active TSS	Brain Anterior Caudate	brain
7	chr5:60625800-60627400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr5:60625800-60628800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:60625800-60628800	Active TSS	Brain Germinal Matrix	brain
10	chr5:60625800-60630000	Active TSS	Fetal Lung	lung
11	chr5:60625800-60630200	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr5:60625800-60630400	Active TSS	Fetal Brain Female	brain
13	chr5:60625800-60630800	Active TSS	NHDF-Ad	bronchial
14	chr5:60625800-60631000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:60625800-60631000	Active TSS	HSMM	muscle
16	chr5:60626000-60627200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:60626000-60627200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr5:60626000-60627400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr5:60626000-60627800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:60626000-60627800	Active TSS	Fetal Heart	heart
21	chr5:60626000-60628200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:60626000-60629400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:60626000-60629600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:60626000-60629800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:60626000-60629800	Active TSS	Primary T cells from cord blood	blood
26	chr5:60626000-60630000	Active TSS	Psoas Muscle	Psoas
27	chr5:60626000-60630000	Active TSS	Rectal Smooth Muscle	rectum
28	chr5:60626000-60630000	Active TSS	Hela-S3	cervix
29	chr5:60626000-60630200	Active TSS	Pancreas	Pancrea
30	chr5:60626000-60630400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:60626000-60630600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:60626000-60630800	Active TSS	Aorta	Aorta
33	chr5:60626000-60630800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:60626000-60630800	Active TSS	Ovary	ovary
35	chr5:60626000-60630800	Active TSS	Right Atrium	heart
36	chr5:60626000-60631000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:60626000-60631000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:60626000-60631200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:60626000-60631200	Active TSS	Brain Cingulate Gyrus	brain
40	chr5:60626000-60631200	Active TSS	Right Ventricle	heart
41	chr5:60626000-60631400	Active TSS	Fetal Kidney	kidney
42	chr5:60626000-60631600	Active TSS	NHLF	lung
43	chr5:60626200-60627400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr5:60626200-60627400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:60626200-60628200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:60626200-60628800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:60626200-60629400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:60626200-60629800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr5:60626200-60629800	Active TSS	Spleen	Spleen
50	chr5:60626200-60630000	Active TSS	Fetal Intestine Large	intestine

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