Variant report

Variant	rs570834624
Chromosome Location	chr2:46768982-46768983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:378)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:46768922-46769815	NB4	blood:	n/a	n/a
2	CHD2	chr2:46768878-46769726	Hela-S3	cervix:	n/a	n/a
3	GABPA	chr2:46768970-46769687	A549	lung:	n/a	chr2:46769561-46769570
4	YY1	chr2:46768976-46769195	K562	blood:	n/a	n/a
5	CTCF	chr2:46768980-46769130	A549	lung:	n/a	n/a
6	RFX5	chr2:46768923-46769660	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr2:46768733-46769202	ECC-1	luminal epithelium:	n/a	n/a
8	REST	chr2:46768822-46769265	SK-N-SH	brain:	n/a	n/a
9	MAFK	chr2:46768667-46769224	K562	blood:	n/a	n/a
10	TBL1XR1	chr2:46768840-46769145	K562	blood:	n/a	n/a
11	CTCF	chr2:46768936-46769221	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr2:46768784-46771617	GM18951	blood:	n/a	n/a
13	POLR2A	chr2:46768945-46769699	U87	brain:	n/a	n/a
14	JUND	chr2:46767603-46770001	SK-N-SH	brain:	n/a	chr2:46768518-46768527 chr2:46767833-46767842
15	POU2F2	chr2:46768877-46769996	GM12878	blood:	n/a	chr2:46769256-46769268 chr2:46769435-46769457 chr2:46769816-46769828
16	POLR2A	chr2:46768888-46769639	HepG2	liver:	n/a	n/a
17	RELA	chr2:46768861-46769762	GM18951	blood:	n/a	n/a
18	MTA3	chr2:46768950-46769600	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:46768690-46769675	K562	blood:	n/a	n/a
20	MYC	chr2:46768982-46769533	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr2:46768940-46769090	HA-sp	spinal cord:	n/a	n/a
22	UBTF	chr2:46768935-46769860	K562	blood:	n/a	n/a
23	RAD21	chr2:46768878-46769267	GM12878	blood:	n/a	n/a
24	CTCF	chr2:46768774-46769246	GM19239	blood:	n/a	n/a
25	ZBTB7A	chr2:46768782-46769767	ECC-1	luminal epithelium:	n/a	n/a
26	NRF1	chr2:46768851-46769940	SK-N-SH	brain:	n/a	chr2:46769561-46769570
27	MAX	chr2:46768919-46769799	A549	lung:	n/a	n/a
28	ELF1	chr2:46768715-46769899	GM12878	blood:	n/a	chr2:46769542-46769551
29	CUX1	chr2:46768903-46769543	K562	blood:	n/a	n/a
30	HEY1	chr2:46768978-46769245	K562	blood:	n/a	n/a
31	CTCF	chr2:46768877-46769320	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:46768822-46769286	A549	lung:	n/a	n/a
33	FOSL2	chr2:46768852-46769292	A549	lung:	n/a	n/a
34	CTCF	chr2:46768959-46769206	HUVEC	blood vessel:	n/a	n/a
35	ARID3A	chr2:46768981-46769720	K562	blood:	n/a	n/a
36	REST	chr2:46768772-46769763	A549	lung:	n/a	chr2:46769603-46769623
37	RAD21	chr2:46768802-46769230	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr2:46768945-46769728	GM12878	blood:	n/a	chr2:46769466-46769477
39	CTCF	chr2:46768750-46769540	HCT-116	colon:	n/a	n/a
40	YY1	chr2:46768889-46769877	GM12892	blood:	n/a	chr2:46769822-46769831
41	ATF2	chr2:46768975-46769679	GM12878	blood:	n/a	n/a
42	RAD21	chr2:46768919-46769265	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr2:46768795-46769309	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr2:46768980-46769130	HCT-116	colon:	n/a	n/a
45	NR2F2	chr2:46768824-46769684	K562	blood:	n/a	n/a
46	FOXM1	chr2:46768744-46769724	GM12878	blood:	n/a	n/a
47	RAD21	chr2:46768796-46769288	HepG2	liver:	n/a	n/a
48	EP300	chr2:46766289-46769972	SK-N-SH	brain:	n/a	chr2:46769660-46769673
49	RAD21	chr2:46768803-46769326	HepG2	liver:	n/a	n/a
50	CTCF	chr2:46768980-46769130	GM12868	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:46768944-46768994	SK-N-SH_RA	brain:	n/a
2	chr2:46768944-46768994	ovcar-3	ovarian:	n/a
3	chr2:46768944-46768994	AoSMC	blood vessel:	n/a
4	chr2:46768944-46768994	HRCEpiC	kidney:	n/a
5	chr2:46768944-46768994	HepG2	liver:	n/a
6	chr2:46768944-46768994	HCPEpiC	choroid plexus:	n/a
7	chr2:46768944-46768994	Jurkat	blood:	n/a
8	chr2:46768944-46768994	AG10803	skin:	n/a
9	chr2:46768944-46768994	HMEC	breast:	n/a
10	chr2:46768944-46768994	A549	lung:	n/a
11	chr2:46768944-46768994	BE2_C	brain:	n/a
12	chr2:46768944-46768994	AG04449	skin:	fetal
13	chr2:46768944-46768994	MCF-7	breast:	n/a
14	chr2:46768944-46768994	GM12891	blood:	n/a
15	chr2:46768944-46768994	HIPEpiC	eye:	n/a
16	chr2:46768944-46768994	NT2-D1	testis:	n/a
17	chr2:46768944-46768994	PrEC	prostate:	n/a
18	chr2:46768944-46768994	SK-N-MC	brain:	n/a
19	chr2:46768944-46768994	SKMC	muscle:	n/a
20	chr2:46768944-46768994	IMR90	lung:	fetal
21	chr2:46768944-46768994	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:46768944-46768994	ECC-1	luminal epithelium:	n/a
23	chr2:46768944-46768994	T-47D	breast:	n/a
24	chr2:46768944-46768994	SK-N-SH	brain:	n/a
25	chr2:46768944-46768994	HRE	kidney:	n/a
26	chr2:46768944-46768994	ProgFib	skin:	n/a
27	chr2:46768944-46768994	GM12878	blood:	n/a
28	chr2:46768944-46768994	Hela-S3	cervix:	n/a
29	chr2:46768944-46768994	HCF	heart:	n/a
30	chr2:46768944-46768994	PANC-1	pancreas:	n/a
31	chr2:46768944-46768994	HUVEC	blood vessel:	n/a
32	chr2:46768944-46768994	H1-hESC	embryonic stem cell:	embryo
33	chr2:46768944-46768994	NH-A	brain:	n/a
34	chr2:46768944-46768994	BJ	skin:	n/a
35	chr2:46768944-46768994	CMK	blood:	n/a
36	chr2:46768944-46768994	RPTEC	kidney:	n/a
37	chr2:46768944-46768994	NB4	blood:	n/a
38	chr2:46768944-46768994	SAEC	small airway:	n/a
39	chr2:46768944-46768994	GM12892	blood:	n/a
40	chr2:46768944-46768994	LNCaP	prostate:	n/a
41	chr2:46768944-46768994	HCT-116	colon:	n/a
42	chr2:46768944-46768994	U87	brain:	n/a
43	chr2:46768944-46768994	HL-60	blood:	n/a
44	chr2:46768944-46768994	NHDF-neo	bronchial:	n/a
45	chr2:46768944-46768994	NHBE	bronchial:	n/a
46	chr2:46768944-46768994	AG09319	gingival:	n/a
47	chr2:46768944-46768994	PFSK-1	brain:	n/a
48	chr2:46768944-46768994	HEEpiC	esophagus:	n/a
49	chr2:46768944-46768994	Caco-2	colon:	n/a
50	chr2:46768944-46768994	HAEpiC	amniotic membrane:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
2	chr2:46767796..46769414-chr2:46769669..46772927,3	MCF-7	breast:
3	chr2:46726438..46729524-chr2:46768838..46771074,3	K562	blood:
4	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
5	chr2:46768702..46771490-chr2:47403057..47405507,2	MCF-7	breast:
6	chr2:46726104..46727862-chr2:46768328..46770840,3	MCF-7	breast:
7	chr2:46721184..46729524-chr2:46766976..46775977,14	K562	blood:
8	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
9	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
10	chr2:46661070..46664987-chr2:46768132..46770822,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1E2-5	chr2:46768815-46769317	NONHSAT070501
2	lnc-ATP6V1E2-5	chr2:46768529-46769141	NONHSAT070508

No data

Variant related genes	Relation type
RHOQ	TF binding region
ATP6V1E2	TF binding region
ATP6V1E2	CpG island
RHOQ	CpG island
ENSG00000250565	Chromatin interaction
ENSG00000253515	Chromatin interaction
ENSG00000151665	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000119878	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000187600	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription 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	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3422495	chr2:46761899-46769356	Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3376216	chr2:46768673-46771221	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3327037	chr2:46768973-46771821	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:46767200-46769200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:46767800-46769200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr2:46767800-46769400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr2:46768000-46769000	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr2:46768000-46769000	Flanking Active TSS	GM12878-XiMat	blood
6	chr2:46768000-46769200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:46768000-46769200	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr2:46768000-46769200	Flanking Active TSS	A549	lung
9	chr2:46768000-46769400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr2:46768200-46769000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:46768200-46769000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:46768200-46769000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:46768200-46769000	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr2:46768200-46769000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:46768200-46769000	Enhancers	Spleen	Spleen
16	chr2:46768200-46769000	Flanking Active TSS	Hela-S3	cervix
17	chr2:46768200-46769200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr2:46768200-46769200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr2:46768200-46769200	Flanking Active TSS	Dnd41	blood
20	chr2:46768200-46769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:46768200-46769400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr2:46768200-46769600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:46768200-46769600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:46768400-46769000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr2:46768400-46769000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:46768400-46769000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr2:46768400-46769000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr2:46768400-46769000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:46768400-46769000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr2:46768400-46769000	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr2:46768400-46769000	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr2:46768400-46769000	Flanking Active TSS	K562	blood
33	chr2:46768400-46769200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:46768400-46769200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:46768400-46769200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:46768400-46769400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:46768400-46769400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr2:46768400-46769400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr2:46768400-46769400	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr2:46768400-46769600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr2:46768400-46769600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr2:46768400-46769600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr2:46768400-46769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:46768400-46769600	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr2:46768400-46771800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr2:46768600-46769000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:46768600-46769000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr2:46768600-46769000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr2:46768600-46769000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr2:46768600-46769000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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