Variant report

Variant	rs535582228
Chromosome Location	chr18:12307766-12307767
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	MAX	chr18:12307154-12308384	NB4	blood:	n/a	chr18:12308001-12308011
2	SIN3A	chr18:12307178-12309035	H1-hESC	embryonic stem cell:	n/a	chr18:12308357-12308370
3	POLR2A	chr18:12307748-12308946	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr18:12307196-12309126	ProgFib	skin:	n/a	n/a
5	POLR2A	chr18:12307224-12307770	U87	brain:	n/a	n/a
6	POLR2A	chr18:12307140-12311108	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr18:12307075-12309165	SK-N-SH	brain:	n/a	chr18:12307795-12307804 chr18:12308781-12308792
8	ZBTB7A	chr18:12307717-12309262	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr18:12304971-12316847	IMR90	lung:	n/a	n/a
10	ZNF143	chr18:12307358-12308916	GM12878	blood:	n/a	chr18:12308007-12308017 chr18:12308280-12308290 chr18:12307625-12307635
11	CHD1	chr18:12306712-12310268	IMR90	lung:	n/a	chr18:12307601-12307611
12	POLR2A	chr18:12307428-12309111	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr18:12307253-12309179	NB4	blood:	n/a	n/a
14	POLR2A	chr18:12307545-12309026	GM12892	blood:	n/a	n/a
15	MAZ	chr18:12306781-12309329	IMR90	lung:	n/a	chr18:12308001-12308011
16	MYC	chr18:12307129-12309115	NB4	blood:	n/a	chr18:12308001-12308011
17	POLR2A	chr18:12307184-12311267	U87	brain:	n/a	n/a
18	POLR2A	chr18:12307241-12311221	HUVEC	blood vessel:	n/a	n/a
19	RAD21	chr18:12307322-12308341	IMR90	lung:	n/a	chr18:12308037-12308051 chr18:12307800-12307812 chr18:12308039-12308053 chr18:12307800-12307810
20	POLR2A	chr18:12307533-12309054	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr18:12306708-12310326	U87	brain:	n/a	n/a
22	MXI1	chr18:12307097-12310263	IMR90	lung:	n/a	n/a
23	HCFC1	chr18:12307715-12309280	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr18:12307119-12310305	HUVEC	blood vessel:	n/a	n/a
25	ZNF143	chr18:12307272-12308162	H1-hESC	embryonic stem cell:	n/a	chr18:12308007-12308017 chr18:12307625-12307635
26	SIN3AK20	chr18:12307711-12308974	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr18:12307308-12310201	PFSK-1	brain:	n/a	n/a
28	CTCF	chr18:12307387-12308296	IMR90	lung:	n/a	chr18:12307978-12307991 chr18:12307797-12307810
29	POLR2A	chr18:12307727-12309309	MCF-7	breast:	n/a	n/a
30	CTCF	chr18:12307640-12307790	HAc	cerebellar:	n/a	n/a
31	CTBP2	chr18:12306327-12308033	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr18:12307758-12309005	K562	blood:	n/a	chr18:12307927-12307938 chr18:12308538-12308549 chr18:12307797-12307808 chr18:12308847-12308856 chr18:12308563-12308577 chr18:12308807-12308821
33	POLR2A	chr18:12307249-12309328	HUVEC	blood vessel:	n/a	n/a
34	SMARCB1	chr18:12307421-12309162	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr18:12307585-12308274	GM12878	blood:	n/a	chr18:12308001-12308011
36	POLR2A	chr18:12307264-12308509	Raji	blood:	n/a	n/a
37	YY1	chr18:12307753-12308940	SK-N-SH	brain:	n/a	chr18:12307927-12307938 chr18:12308538-12308549 chr18:12307797-12307808 chr18:12308847-12308856 chr18:12308563-12308577 chr18:12308807-12308821
38	POLR2A	chr18:12307229-12309227	K562	blood:	n/a	n/a
39	BACH1	chr18:12307314-12307921	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr18:12307350-12308900	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr18:12307022-12309231	SK-N-MC	brain:	n/a	n/a
42	CTCF	chr18:12307371-12308143	GM12878	blood:	n/a	chr18:12307978-12307991 chr18:12307797-12307810
43	CTCF	chr18:12307640-12307790	GM12867	blood:	n/a	n/a
44	POLR2A	chr18:12307575-12309070	GM12891	blood:	n/a	n/a
45	POLR2A	chr18:12307430-12310239	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr18:12307036-12310287	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr18:12307471-12307767	SK-N-SH	brain:	n/a	n/a
48	GABPA	chr18:12307761-12308321	K562	blood:	n/a	chr18:12308007-12308016 chr18:12308281-12308290
49	ELF1	chr18:12307155-12307778	GM12878	blood:	n/a	n/a
50	POLR2A	chr18:12307434-12309441	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
2	chr18:12306558..12308875-chr18:12376128..12379112,4	MCF-7	breast:
3	chr18:12307737..12309568-chr20:45947449..45950208,2	MCF-7	breast:
4	chr18:12307367..12309512-chr18:12310463..12312362,3	MCF-7	breast:
5	chr18:12307184..12308743-chr18:12701040..12703824,2	K562	blood:
6	chr18:12306506..12308836-chr18:12701681..12703824,3	K562	blood:
7	chr18:12306891..12312604-chr18:12376208..12378768,5	K562	blood:
8	chr18:12305251..12310573-chr18:12373540..12378768,12	K562	blood:
9	chr18:12303398..12305461-chr18:12307257..12308973,2	MCF-7	breast:

Variant related genes	Relation type
TUBB6	TF binding region
RNU6-170P	TF binding region
ENSG00000141385	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000199702	Chromatin interaction
ENSG00000176014	Chromatin interaction
ENSG00000101624	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909401	chr18:12211483-12312075	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
11	nsv1058661	chr18:12280366-12313865	Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	esv3316265	chr18:12307177-12309725	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
14	esv3316266	chr18:12307177-12309725	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
15	esv3345228	chr18:12307452-12309350	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 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	chr18:12305600-12307800	Weak transcription	Pancreas	Pancrea
2	chr18:12306400-12308000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr18:12306400-12309400	Active TSS	HSMMtube	muscle
4	chr18:12306600-12309600	Active TSS	Right Atrium	heart
5	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
6	chr18:12306800-12307800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:12306800-12307800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr18:12306800-12308000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr18:12306800-12308600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:12307000-12307800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
13	chr18:12307000-12307800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:12307000-12307800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr18:12307000-12307800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr18:12307000-12307800	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr18:12307000-12308000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr18:12307000-12308000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr18:12307000-12308800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr18:12307000-12309000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:12307000-12309400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr18:12307000-12309400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr18:12307000-12309400	Active TSS	Ovary	ovary
24	chr18:12307000-12309400	Active TSS	HSMM	muscle
25	chr18:12307000-12309400	Active TSS	NHDF-Ad	bronchial
26	chr18:12307000-12309400	Active TSS	NHLF	lung
27	chr18:12307000-12309600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr18:12307000-12309600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:12307000-12309600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:12307000-12309600	Active TSS	Colon Smooth Muscle	Colon
31	chr18:12307000-12309600	Active TSS	Rectal Smooth Muscle	rectum
32	chr18:12307000-12309800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr18:12307200-12307800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr18:12307200-12307800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:12307200-12307800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:12307200-12307800	Flanking Active TSS	Placenta	Placenta
37	chr18:12307200-12307800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr18:12307200-12307800	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr18:12307200-12308000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
40	chr18:12307200-12308000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
41	chr18:12307200-12308200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:12307200-12308800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr18:12307200-12308800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr18:12307200-12308800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
45	chr18:12307200-12308800	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr18:12307200-12308800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr18:12307200-12309000	Active TSS	Lung	lung
48	chr18:12307200-12309000	Active TSS	Small Intestine	intestine
49	chr18:12307200-12309200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr18:12307200-12309200	Bivalent/Poised TSS	Thymus	Thymus

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