Variant report

Variant	rs299207
Chromosome Location	chr5:118324114-118324115
allele	C/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	GABPA	chr5:118323774-118324480	K562	blood:	n/a	chr5:118323965-118323974
2	CTCF	chr5:118324069-118324448	A549	lung:	n/a	chr5:118324248-118324261 chr5:118324245-118324263 chr5:118324246-118324262 chr5:118324248-118324261
3	CTCF	chr5:118324094-118324409	GM12878	blood:	n/a	chr5:118324248-118324261 chr5:118324245-118324263 chr5:118324246-118324262 chr5:118324248-118324261
4	CCNT2	chr5:118323723-118324672	K562	blood:	n/a	chr5:118323971-118323980 chr5:118323965-118323974
5	POLR2A	chr5:118324034-118324551	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:118323661-118324632	U87	brain:	n/a	n/a
7	RCOR1	chr5:118323659-118324756	K562	blood:	n/a	n/a
8	TBL1XR1	chr5:118323665-118324545	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:118323892-118324235	GM12891	blood:	n/a	n/a
10	JUND	chr5:118323710-118324539	K562	blood:	n/a	chr5:118324318-118324327
11	USF1	chr5:118323747-118324478	ECC-1	luminal epithelium:	n/a	chr5:118323955-118323971 chr5:118324242-118324258 chr5:118323947-118323963
12	ELF1	chr5:118323676-118324549	GM12878	blood:	n/a	chr5:118323949-118323958
13	CTCF	chr5:118324101-118324360	ECC-1	luminal epithelium:	n/a	chr5:118324248-118324261 chr5:118324245-118324263 chr5:118324246-118324262 chr5:118324248-118324261
14	CEBPB	chr5:118323805-118324364	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMC3	chr5:118323748-118324644	HepG2	liver:	n/a	chr5:118324247-118324261 chr5:118323967-118323977 chr5:118323915-118323929 chr5:118323919-118323929
16	GATA1	chr5:118323745-118324547	PBDE	blood:	n/a	chr5:118323776-118323786
17	MAX	chr5:118323715-118324822	NB4	blood:	n/a	chr5:118324260-118324269
18	MAX	chr5:118323647-118324679	A549	lung:	n/a	chr5:118324260-118324269
19	MXI1	chr5:118323209-118324990	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr5:118323606-118324703	PFSK-1	brain:	n/a	n/a
21	TAF1	chr5:118324060-118324320	GM12891	blood:	n/a	n/a
22	TCF12	chr5:118324105-118324324	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr5:118323604-118324538	MCF-7	breast:	n/a	chr5:118323916-118323929 chr5:118323914-118323930 chr5:118324248-118324261 chr5:118323913-118323931 chr5:118324245-118324263 chr5:118323916-118323929 chr5:118324246-118324262 chr5:118324248-118324261
24	POLR2A	chr5:118323706-118324737	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr5:118324103-118324392	H1-hESC	embryonic stem cell:	n/a	chr5:118324248-118324261 chr5:118324245-118324263 chr5:118324246-118324262 chr5:118324248-118324261
26	CHD2	chr5:118323796-118324444	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:118323848-118324586	GM12892	blood:	n/a	n/a
28	REST	chr5:118323707-118324705	A549	lung:	n/a	n/a
29	RAD21	chr5:118323666-118324769	HepG2	liver:	n/a	chr5:118323914-118323933 chr5:118323919-118323929 chr5:118323967-118323977 chr5:118323919-118323931 chr5:118323917-118323930 chr5:118324246-118324265
30	TEAD4	chr5:118323538-118324479	ECC-1	luminal epithelium:	n/a	n/a
31	ZEB1	chr5:118323730-118324385	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:118323700-118324539	H1-neurons	neurons:	n/a	n/a
33	MYBL2	chr5:118323484-118324685	HepG2	liver:	n/a	n/a
34	SMC3	chr5:118323491-118324616	GM12878	blood:	n/a	chr5:118324247-118324261 chr5:118323967-118323977 chr5:118323915-118323929 chr5:118323919-118323929
35	POLR2A	chr5:118323643-118324662	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr5:118323722-118324416	K562	blood:	n/a	n/a
37	MYC	chr5:118323821-118324932	MCF10A-Er-Src	breast:	n/a	chr5:118324260-118324269
38	CTCF	chr5:118323037-118324938	SK-N-SH	brain:	n/a	chr5:118323916-118323929 chr5:118323914-118323930 chr5:118324248-118324261 chr5:118323913-118323931 chr5:118324245-118324263 chr5:118323916-118323929 chr5:118324246-118324262 chr5:118324248-118324261
39	CTCF	chr5:118323755-118324442	GM19238	blood:	n/a	chr5:118323916-118323929 chr5:118323914-118323930 chr5:118324248-118324261 chr5:118323913-118323931 chr5:118324245-118324263 chr5:118323916-118323929 chr5:118324246-118324262 chr5:118324248-118324261
40	TBP	chr5:118323776-118324674	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:118323778-118324517	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr5:118323706-118324583	GM12892	blood:	n/a	n/a
43	ZMIZ1	chr5:118323765-118324592	K562	blood:	n/a	n/a
44	JUND	chr5:118323634-118324292	HepG2	liver:	n/a	n/a
45	MYC	chr5:118324085-118324140	MCF-7	breast:	n/a	n/a
46	PAX5	chr5:118323714-118324470	GM12892	blood:	n/a	n/a
47	MAX	chr5:118323641-118324676	MCF-7	breast:	n/a	chr5:118324260-118324269
48	ELF1	chr5:118323630-118324402	HepG2	liver:	n/a	chr5:118323949-118323958
49	TCF12	chr5:118323684-118324795	ECC-1	luminal epithelium:	n/a	chr5:118323836-118323844 chr5:118324622-118324629
50	MYC	chr5:118323799-118324522	MCF-7	breast:	n/a	chr5:118324260-118324269

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:118324104-118324154	H1-hESC	embryonic stem cell:	embryo
2	chr5:118324104-118324154	GM19239	blood:	n/a
3	chr5:118324104-118324154	A549	lung:	n/a
4	chr5:118324104-118324154	SK-N-MC	brain:	n/a
5	chr5:118324104-118324154	ovcar-3	ovarian:	n/a
6	chr5:118324104-118324154	HMEC	breast:	n/a
7	chr5:118324104-118324154	HUVEC	blood vessel:	n/a
8	chr5:118324104-118324154	HNPCEpiC	eye:	n/a
9	chr5:118324104-118324154	HEK293	kidney:	embryo
10	chr5:118324104-118324154	LNCaP	prostate:	n/a
11	chr5:118324104-118324154	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:118324104-118324154	BE2_C	brain:	n/a
13	chr5:118324104-118324154	NT2-D1	testis:	n/a
14	chr5:118324104-118324154	ProgFib	skin:	n/a
15	chr5:118324104-118324154	GM06990	blood:	n/a
16	chr5:118324104-118324154	K562	blood:	n/a
17	chr5:118324104-118324154	MCF10A-Er-Src	breast:	n/a
18	chr5:118324104-118324154	RPTEC	kidney:	n/a
19	chr5:118324104-118324154	CMK	blood:	n/a
20	chr5:118324104-118324154	IMR90	lung:	fetal
21	chr5:118324104-118324154	GM12891	blood:	n/a
22	chr5:118324104-118324154	NB4	blood:	n/a
23	chr5:118324104-118324154	HRCEpiC	kidney:	n/a
24	chr5:118324104-118324154	Hepatocyte	liver:	n/a
25	chr5:118324104-118324154	AG09309	skin:	n/a
26	chr5:118324104-118324154	NHDF-neo	bronchial:	n/a
27	chr5:118324104-118324154	PrEC	prostate:	n/a
28	chr5:118324104-118324154	NH-A	brain:	n/a
29	chr5:118324104-118324154	PFSK-1	brain:	n/a
30	chr5:118324104-118324154	AG09319	gingival:	n/a
31	chr5:118324104-118324154	HAEpiC	amniotic membrane:	n/a
32	chr5:118324104-118324154	NHBE	bronchial:	n/a
33	chr5:118324104-118324154	BJ	skin:	n/a
34	chr5:118324104-118324154	Caco-2	colon:	n/a
35	chr5:118324104-118324154	SAEC	small airway:	n/a
36	chr5:118324104-118324154	U87	brain:	n/a
37	chr5:118324104-118324154	SK-N-SH	brain:	n/a
38	chr5:118324104-118324154	AG04450	lung:	fetal
39	chr5:118324104-118324154	SK-N-SH_RA	brain:	n/a
40	chr5:118324104-118324154	HCF	heart:	n/a
41	chr5:118324104-118324154	ECC-1	luminal epithelium:	n/a
42	chr5:118324104-118324154	MCF-7	breast:	n/a
43	chr5:118324104-118324154	PANC-1	pancreas:	n/a
44	chr5:118324104-118324154	HIPEpiC	eye:	n/a
45	chr5:118324104-118324154	AoSMC	blood vessel:	n/a
46	chr5:118324104-118324154	HRE	kidney:	n/a
47	chr5:118324104-118324154	T-47D	breast:	n/a
48	chr5:118324104-118324154	HepG2	liver:	n/a
49	chr5:118324104-118324154	AG04449	skin:	fetal
50	chr5:118324104-118324154	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:118323277..118326022-chr5:118603985..118605806,3	MCF-7	breast:
2	chr20:62205096..62205736-chr5:118323546..118324400,2	HCT-116	colon:
3	chr5:118323806..118324367-chr5:118405985..118406648,2	Hela-S3	cervix:
4	chr14:39581660..39583614-chr5:118323067..118325473,2	MCF-7	breast:
5	chr5:118323796..118326237-chr5:118405565..118407849,3	MCF-7	breast:
6	chr5:118322493..118325395-chr5:118402550..118406560,4	K562	blood:
7	chr5:118323861..118326778-chr5:118787539..118789741,2	MCF-7	breast:
8	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:
9	chr1:6484602..6485206-chr5:118323676..118324379,2	HCT-116	colon:

Variant related genes	Relation type
DTWD2	TF binding region
DTWD2	CpG island
ENSG00000092208	Chromatin interaction
ENSG00000239011	Chromatin interaction
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000145779	Chromatin interaction
ENSG00000069812	Chromatin interaction
ENSG00000133835	Chromatin interaction
ENSG00000130589	Chromatin interaction
ENSG00000187017	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1448477	1.00[AMR][1000 genomes]
rs17144924	1.00[AMR][1000 genomes]
rs299219	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
3	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr5:118322400-118324800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:118322800-118324400	Active TSS	Fetal Muscle Leg	muscle
3	chr5:118323000-118324200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118323000-118324800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:118323000-118324800	Active TSS	Right Ventricle	heart
6	chr5:118323000-118325000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:118323000-118325000	Active TSS	NH-A	brain
8	chr5:118323200-118324400	Active TSS	Fetal Thymus	thymus
9	chr5:118323200-118324600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:118323200-118324800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr5:118323200-118324800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:118323200-118324800	Active TSS	Psoas Muscle	Psoas
13	chr5:118323200-118325000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:118323200-118325000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr5:118323200-118325200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:118323400-118324400	Active TSS	Primary T cells fromperipheralblood	blood
17	chr5:118323400-118324400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:118323400-118324400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:118323400-118324400	Active TSS	Placenta	Placenta
20	chr5:118323400-118324400	Active TSS	HMEC	breast
21	chr5:118323400-118324400	Active TSS	Osteobl	bone
22	chr5:118323400-118324600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr5:118323400-118324600	Active TSS	Fetal Muscle Trunk	muscle
24	chr5:118323400-118324600	Active TSS	GM12878-XiMat	blood
25	chr5:118323400-118324800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr5:118323400-118324800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:118323400-118324800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr5:118323400-118324800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:118323400-118324800	Active TSS	Aorta	Aorta
30	chr5:118323400-118324800	Active TSS	Colonic Mucosa	Colon
31	chr5:118323400-118324800	Active TSS	Ovary	ovary
32	chr5:118323400-118324800	Active TSS	Thymus	Thymus
33	chr5:118323400-118324800	Active TSS	A549	lung
34	chr5:118323400-118324800	Active TSS	HSMM	muscle
35	chr5:118323400-118324800	Active TSS	K562	blood
36	chr5:118323400-118325000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr5:118323400-118325000	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr5:118323400-118325000	Active TSS	NHLF	lung
39	chr5:118323600-118324200	Active TSS	HepG2	liver
40	chr5:118323600-118324400	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr5:118323600-118324400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:118323600-118324400	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr5:118323600-118324400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:118323600-118324400	Active TSS	HUVEC	blood vessel
45	chr5:118323600-118324600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:118323600-118324600	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr5:118323600-118324600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:118323600-118324600	Active TSS	Liver	Liver
49	chr5:118323600-118324600	Active TSS	Fetal Heart	heart
50	chr5:118323600-118324600	Active TSS	Lung	lung

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