Variant report

Variant	rs35663590
Chromosome Location	chr2:97527545-97527546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:97527081-97528140	GM12878	blood:	n/a	n/a
2	FOXA2	chr2:97527439-97528368	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:97527506-97527733	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:97527346-97527997	GM12892	blood:	n/a	n/a
5	ELF1	chr2:97527469-97527716	K562	blood:	n/a	n/a
6	POLR2A	chr2:97523607-97528252	K562	blood:	n/a	n/a
7	POLR2A	chr2:97527328-97527921	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr2:97527379-97527738	K562	blood:	n/a	n/a
9	POLR2A	chr2:97527407-97527817	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:97526909-97536686	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:97527353-97527687	K562	blood:	n/a	n/a
12	POLR2A	chr2:97523498-97528233	K562	blood:	n/a	n/a
13	POLR2A	chr2:97522772-97528073	K562	blood:	n/a	n/a
14	POLR2A	chr2:97527472-97527657	ProgFib	skin:	n/a	n/a
15	CCNT2	chr2:97527487-97527665	K562	blood:	n/a	n/a
16	POLR2A	chr2:97525519-97527919	K562	blood:	n/a	n/a
17	SPI1	chr2:97527512-97528063	HL-60	blood:	n/a	n/a
18	POLR2A	chr2:97526892-97528187	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97527523-97527573	HL-60	blood:	n/a
2	chr2:97527523-97527573	HCF	heart:	n/a
3	chr2:97527523-97527573	GM12892	blood:	n/a
4	chr2:97527523-97527573	GM12878	blood:	n/a
5	chr2:97527523-97527573	HNPCEpiC	eye:	n/a
6	chr2:97527523-97527573	AG10803	skin:	n/a
7	chr2:97527523-97527573	RPTEC	kidney:	n/a
8	chr2:97527523-97527573	ovcar-3	ovarian:	n/a
9	chr2:97527523-97527573	T-47D	breast:	n/a
10	chr2:97527523-97527573	NHBE	bronchial:	n/a
11	chr2:97527523-97527573	NHDF-neo	bronchial:	n/a
12	chr2:97527523-97527573	CMK	blood:	n/a
13	chr2:97527523-97527573	MCF10A-Er-Src	breast:	n/a
14	chr2:97527523-97527573	SK-N-SH	brain:	n/a
15	chr2:97527523-97527573	HEK293	kidney:	embryo
16	chr2:97527523-97527573	NT2-D1	testis:	n/a
17	chr2:97527523-97527573	BE2_C	brain:	n/a
18	chr2:97527523-97527573	LNCaP	prostate:	n/a
19	chr2:97527523-97527573	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:97527523-97527573	AG09309	skin:	n/a
21	chr2:97527523-97527573	MCF-7	breast:	n/a
22	chr2:97527523-97527573	U87	brain:	n/a
23	chr2:97527523-97527573	Hela-S3	cervix:	n/a
24	chr2:97527523-97527573	AG09319	gingival:	n/a
25	chr2:97527523-97527573	HAEpiC	amniotic membrane:	n/a
26	chr2:97527523-97527573	GM12891	blood:	n/a
27	chr2:97527523-97527573	PFSK-1	brain:	n/a
28	chr2:97527523-97527573	AG04449	skin:	fetal
29	chr2:97527523-97527573	NH-A	brain:	n/a
30	chr2:97527523-97527573	SK-N-SH_RA	brain:	n/a
31	chr2:97527523-97527573	AG04450	lung:	fetal
32	chr2:97527523-97527573	HepG2	liver:	n/a
33	chr2:97527523-97527573	HMEC	breast:	n/a
34	chr2:97527523-97527573	HUVEC	blood vessel:	n/a
35	chr2:97527523-97527573	Caco-2	colon:	n/a
36	chr2:97527523-97527573	HRE	kidney:	n/a
37	chr2:97527523-97527573	Jurkat	blood:	n/a
38	chr2:97527523-97527573	PrEC	prostate:	n/a
39	chr2:97527523-97527573	SK-N-MC	brain:	n/a
40	chr2:97527523-97527573	GM19239	blood:	n/a
41	chr2:97527523-97527573	H1-hESC	embryonic stem cell:	embryo
42	chr2:97527523-97527573	HEEpiC	esophagus:	n/a
43	chr2:97527523-97527573	HCPEpiC	choroid plexus:	n/a
44	chr2:97527523-97527573	Hepatocyte	liver:	n/a
45	chr2:97527523-97527573	IMR90	lung:	fetal
46	chr2:97527523-97527573	HRCEpiC	kidney:	n/a
47	chr2:97527523-97527573	HCT-116	colon:	n/a
48	chr2:97527523-97527573	AoSMC	blood vessel:	n/a
49	chr2:97527523-97527573	NB4	blood:	n/a
50	chr2:97527523-97527573	HRPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
2	chr2:97503321..97507604-chr2:97523839..97527603,4	K562	blood:
3	chr2:97503321..97506022-chr2:97524781..97527603,2	K562	blood:

No data

Variant related genes	Relation type
ANKRD39	TF binding region
ANKRD23	TF binding region
ANKRD23	CpG island
ANKRD39	CpG island
ENSG00000163126	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000168754	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72811637	1.00[AFR][1000 genomes]
rs72811676	1.00[AFR][1000 genomes]
rs72811680	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats 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 miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97523800-97533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:97524200-97533400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:97524400-97529600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:97524600-97527600	Weak transcription	GM12878-XiMat	blood
5	chr2:97524600-97527800	Weak transcription	Fetal Kidney	kidney
6	chr2:97524600-97530600	Weak transcription	Thymus	Thymus
7	chr2:97524600-97532800	Weak transcription	Hela-S3	cervix
8	chr2:97524600-97533400	Genic enhancers	Spleen	Spleen
9	chr2:97524600-97533600	Weak transcription	Psoas Muscle	Psoas
10	chr2:97524800-97529400	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:97524800-97531600	Strong transcription	Esophagus	oesophagus
12	chr2:97525000-97527800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:97525000-97531200	Weak transcription	HUVEC	blood vessel
14	chr2:97525000-97533800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:97525200-97527600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:97525200-97527800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:97525200-97528000	Weak transcription	Stomach Mucosa	stomach
18	chr2:97525200-97531800	Weak transcription	Right Atrium	heart
19	chr2:97525400-97529000	Weak transcription	NHDF-Ad	bronchial
20	chr2:97525400-97533600	Weak transcription	Small Intestine	intestine
21	chr2:97525600-97532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:97525800-97527600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:97525800-97527600	Genic enhancers	HepG2	liver
24	chr2:97525800-97527800	Genic enhancers	Brain Hippocampus Middle	brain
25	chr2:97525800-97527800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:97525800-97527800	Genic enhancers	Placenta	Placenta
27	chr2:97525800-97527800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:97525800-97528200	Genic enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:97525800-97530000	Strong transcription	Gastric	stomach
30	chr2:97525800-97530200	Genic enhancers	Brain Anterior Caudate	brain
31	chr2:97525800-97531000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr2:97525800-97531200	Strong transcription	Pancreas	Pancrea
33	chr2:97525800-97531200	Strong transcription	HSMMtube	muscle
34	chr2:97525800-97532000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:97525800-97532000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:97525800-97532000	Strong transcription	Osteobl	bone
37	chr2:97525800-97532200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:97525800-97532200	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr2:97525800-97532400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:97525800-97532600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr2:97525800-97532600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:97525800-97532600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:97525800-97532600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:97525800-97532600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:97525800-97532600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:97525800-97532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:97525800-97532600	Strong transcription	NHEK	skin
48	chr2:97525800-97532800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:97525800-97533200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:97525800-97533200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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