Variant report

Variant	rs115805160
Chromosome Location	chr18:44496921-44496922
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	POLR2A	chr18:44496736-44497034	K562	blood:	n/a	n/a
2	ZNF143	chr18:44496780-44496962	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr18:44496920-44497681	K562	blood:	n/a	chr18:44497324-44497338 chr18:44497267-44497281
4	YY1	chr18:44496910-44497735	GM12891	blood:	n/a	chr18:44497300-44497312 chr18:44497203-44497212 chr18:44497434-44497448 chr18:44497433-44497447 chr18:44497439-44497448 chr18:44497587-44497601 chr18:44497065-44497074 chr18:44497433-44497444 chr18:44497590-44497601 chr18:44497433-44497442
5	CHD2	chr18:44496709-44497875	Hela-S3	cervix:	n/a	n/a
6	MYC	chr18:44496449-44498053	MCF10A-Er-Src	breast:	n/a	chr18:44497801-44497808
7	POLR2A	chr18:44496813-44498259	GM15510	blood:	n/a	n/a
8	MAX	chr18:44496755-44498146	H1-hESC	embryonic stem cell:	n/a	chr18:44497801-44497808
9	SIN3A	chr18:44496719-44497376	GM12878	blood:	n/a	n/a
10	POLR2A	chr18:44496649-44498088	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr18:44496743-44498448	K562	blood:	n/a	n/a
12	CCNT2	chr18:44496873-44497870	K562	blood:	n/a	chr18:44497507-44497516 chr18:44497011-44497020
13	POLR2A	chr18:44496746-44498249	GM19099	blood:	n/a	n/a
14	E2F6	chr18:44496741-44498286	K562	blood:	n/a	chr18:44498042-44498054 chr18:44498042-44498051 chr18:44497440-44497450
15	POLR2A	chr18:44496684-44498320	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr18:44496861-44497772	Hela-S3	cervix:	n/a	n/a
17	TBP	chr18:44496655-44496964	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr18:44496747-44496982	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr18:44496718-44498260	GM19193	blood:	n/a	n/a
20	MAX	chr18:44496756-44498174	A549	lung:	n/a	chr18:44497801-44497808
21	TAF1	chr18:44496825-44497704	HepG2	liver:	n/a	n/a
22	POLR2A	chr18:44496699-44497028	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr18:44496635-44497845	IMR90	lung:	n/a	n/a
24	MAX	chr18:44496645-44498049	ECC-1	luminal epithelium:	n/a	chr18:44497801-44497808
25	SIN3AK20	chr18:44496690-44496980	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr18:44496011-44498385	MCF10A-Er-Src	breast:	n/a	n/a
27	YY1	chr18:44496870-44497766	SK-N-SH	brain:	n/a	chr18:44497300-44497312 chr18:44497203-44497212 chr18:44497434-44497448 chr18:44497433-44497447 chr18:44497439-44497448 chr18:44497587-44497601 chr18:44497065-44497074 chr18:44497433-44497444 chr18:44497590-44497601 chr18:44497433-44497442
28	REST	chr18:44496466-44498165	H1-neurons	neurons:	n/a	chr18:44497598-44497611
29	ESRRA	chr18:44496008-44498524	GM12878	blood:	n/a	chr18:44497994-44498007 chr18:44497979-44497989 chr18:44497978-44497991 chr18:44497994-44498006 chr18:44496466-44496482 chr18:44497996-44498006 chr18:44497979-44497989 chr18:44497987-44498005
30	POLR2A	chr18:44496914-44497900	MCF-7	breast:	n/a	n/a
31	RELA	chr18:44496751-44498228	GM15510	blood:	n/a	n/a
32	POLR2A	chr18:44496504-44498237	PBDE	blood:	n/a	n/a
33	MAX	chr18:44496695-44498258	NB4	blood:	n/a	chr18:44497801-44497808
34	POLR2A	chr18:44496756-44497008	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr18:44496659-44497056	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr18:44496838-44498376	K562	blood:	n/a	n/a
37	YY1	chr18:44496871-44498300	GM12878	blood:	n/a	chr18:44497300-44497312 chr18:44497203-44497212 chr18:44498151-44498170 chr18:44497434-44497448 chr18:44498209-44498217 chr18:44497433-44497447 chr18:44497439-44497448 chr18:44497587-44497601 chr18:44498042-44498051 chr18:44497065-44497074 chr18:44497433-44497444 chr18:44497590-44497601 chr18:44497433-44497442
38	POLR2A	chr18:44496611-44498625	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr18:44496778-44498296	GM18526	blood:	n/a	n/a
40	BHLHE40	chr18:44496660-44498028	GM12878	blood:	n/a	chr18:44497463-44497472 chr18:44497464-44497473 chr18:44497589-44497605 chr18:44497462-44497475 chr18:44497579-44497595 chr18:44497658-44497674 chr18:44497433-44497449
41	POLR2A	chr18:44496734-44498043	HepG2	liver:	n/a	n/a
42	POLR2A	chr18:44496722-44498396	GM12878	blood:	n/a	n/a
43	POLR2A	chr18:44496800-44497871	GM12878	blood:	n/a	n/a
44	EGR1	chr18:44496914-44497256	H1-hESC	embryonic stem cell:	n/a	n/a
45	HCFC1	chr18:44496501-44498309	K562	blood:	n/a	n/a
46	UBTF	chr18:44496790-44497758	K562	blood:	n/a	n/a
47	POLR2A	chr18:44496776-44498505	GM18951	blood:	n/a	n/a
48	TBP	chr18:44496545-44498270	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr18:44496728-44497046	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr18:44496691-44497032	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44496911-44496961	NHDF-neo	bronchial:	n/a
2	chr18:44496911-44496961	HRPEpiC	eye:	n/a
3	chr18:44496911-44496961	PANC-1	pancreas:	n/a
4	chr18:44496911-44496961	K562	blood:	n/a
5	chr18:44496911-44496961	HepG2	liver:	n/a
6	chr18:44496911-44496961	GM12891	blood:	n/a
7	chr18:44496911-44496961	ovcar-3	ovarian:	n/a
8	chr18:44496911-44496961	SK-N-SH	brain:	n/a
9	chr18:44496911-44496961	HRCEpiC	kidney:	n/a
10	chr18:44496911-44496961	SKMC	muscle:	n/a
11	chr18:44496911-44496961	AG09319	gingival:	n/a
12	chr18:44496911-44496961	GM19239	blood:	n/a
13	chr18:44496911-44496961	AG09309	skin:	n/a
14	chr18:44496911-44496961	H1-hESC	embryonic stem cell:	embryo
15	chr18:44496911-44496961	HEEpiC	esophagus:	n/a
16	chr18:44496911-44496961	BE2_C	brain:	n/a
17	chr18:44496911-44496961	NHBE	bronchial:	n/a
18	chr18:44496911-44496961	HL-60	blood:	n/a
19	chr18:44496911-44496961	Hepatocyte	liver:	n/a
20	chr18:44496911-44496961	HCF	heart:	n/a
21	chr18:44496911-44496961	Jurkat	blood:	n/a
22	chr18:44496911-44496961	GM12892	blood:	n/a
23	chr18:44496911-44496961	ECC-1	luminal epithelium:	n/a
24	chr18:44496911-44496961	SK-N-SH_RA	brain:	n/a
25	chr18:44496911-44496961	AG04450	lung:	fetal
26	chr18:44496911-44496961	HCM	heart:	n/a
27	chr18:44496911-44496961	MCF10A-Er-Src	breast:	n/a
28	chr18:44496911-44496961	GM06990	blood:	n/a
29	chr18:44496911-44496961	ProgFib	skin:	n/a
30	chr18:44496911-44496961	NB4	blood:	n/a
31	chr18:44496911-44496961	HCT-116	colon:	n/a
32	chr18:44496911-44496961	HIPEpiC	eye:	n/a
33	chr18:44496911-44496961	T-47D	breast:	n/a
34	chr18:44496911-44496961	NT2-D1	testis:	n/a
35	chr18:44496911-44496961	HCPEpiC	choroid plexus:	n/a
36	chr18:44496911-44496961	HUVEC	blood vessel:	n/a
37	chr18:44496911-44496961	HPAEpiC	pulmonary alveolar:	n/a
38	chr18:44496911-44496961	IMR90	lung:	fetal
39	chr18:44496911-44496961	CMK	blood:	n/a
40	chr18:44496911-44496961	A549	lung:	n/a
41	chr18:44496911-44496961	Hela-S3	cervix:	n/a
42	chr18:44496911-44496961	SK-N-MC	brain:	n/a
43	chr18:44496911-44496961	MCF-7	breast:	n/a
44	chr18:44496911-44496961	HMEC	breast:	n/a
45	chr18:44496911-44496961	NH-A	brain:	n/a
46	chr18:44496911-44496961	SAEC	small airway:	n/a
47	chr18:44496911-44496961	AG04449	skin:	fetal
48	chr18:44496911-44496961	PFSK-1	brain:	n/a
49	chr18:44496911-44496961	HAEpiC	amniotic membrane:	n/a
50	chr18:44496911-44496961	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:44422888..44425442-chr18:44495658..44497517,2	K562	blood:
2	chr14:51900262..51903156-chr18:44496356..44498175,2	MCF-7	breast:
3	chr18:44496509..44498962-chr18:44499238..44501525,3	MCF-7	breast:

Variant related genes	Relation type
KATNAL2	TF binding region
KATNAL2	CpG island
ENSG00000258893	Chromatin interaction
ENSG00000078043	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3360133	chr18:44496254-44498652	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr18:44495400-44498200	Active TSS	NHLF	lung
2	chr18:44495400-44498400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr18:44495600-44498200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr18:44495600-44498200	Active TSS	K562	blood
5	chr18:44495600-44498400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr18:44495600-44498600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr18:44495800-44497000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr18:44495800-44497000	Flanking Active TSS	Thymus	Thymus
9	chr18:44495800-44497800	Active TSS	HepG2	liver
10	chr18:44495800-44498000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:44495800-44498000	Active TSS	Osteobl	bone
12	chr18:44495800-44498800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr18:44495800-44498800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr18:44496000-44497000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr18:44496000-44497000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:44496000-44497000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr18:44496000-44497000	Flanking Active TSS	Liver	Liver
18	chr18:44496000-44497000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr18:44496000-44497600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:44496000-44497800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:44496000-44497800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:44496000-44498000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:44496000-44498000	Active TSS	Psoas Muscle	Psoas
24	chr18:44496000-44498200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:44496000-44498200	Active TSS	Fetal Intestine Small	intestine
26	chr18:44496000-44498200	Active TSS	Right Atrium	heart
27	chr18:44496000-44498200	Active TSS	Right Ventricle	heart
28	chr18:44496000-44498200	Active TSS	HMEC	breast
29	chr18:44496000-44498400	Active TSS	Fetal Muscle Trunk	muscle
30	chr18:44496000-44498400	Active TSS	NHDF-Ad	bronchial
31	chr18:44496000-44498600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr18:44496000-44498600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:44496000-44498600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:44496000-44498800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr18:44496200-44497000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr18:44496200-44497000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:44496200-44497200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr18:44496200-44497800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr18:44496200-44497800	Active TSS	Fetal Brain Female	brain
40	chr18:44496200-44497800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr18:44496200-44498000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr18:44496200-44498000	Active TSS	Brain Cingulate Gyrus	brain
43	chr18:44496200-44498000	Active TSS	Fetal Thymus	thymus
44	chr18:44496200-44498000	Active TSS	A549	lung
45	chr18:44496200-44498000	Active TSS	HSMMtube	muscle
46	chr18:44496200-44498200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr18:44496200-44498200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:44496200-44498200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr18:44496200-44498200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr18:44496200-44498200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links