Variant report

Variant	rs529970135
Chromosome Location	chr2:20647512-20647513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:20646048-20648294	A549	lung:	n/a	chr2:20646693-20646703
2	CTCF	chr2:20647480-20647630	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:20647182-20647734	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr2:20647480-20647630	GM12875	blood:	n/a	n/a
5	POLR2A	chr2:20646494-20647774	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr2:20646888-20647978	MCF-7	breast:	n/a	n/a
7	MAX	chr2:20646207-20648216	A549	lung:	n/a	chr2:20646693-20646703
8	POLR2A	chr2:20646460-20648077	GM12878	blood:	n/a	n/a
9	MTA3	chr2:20646181-20647562	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:20646405-20648265	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:20646248-20649093	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr2:20646244-20650963	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:20646309-20648305	MCF-7	breast:	n/a	n/a
14	SP1	chr2:20647189-20647819	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr2:20646681-20651477	A549	lung:	n/a	n/a
16	MBD4	chr2:20646591-20648150	HepG2	liver:	n/a	n/a
17	POLR2A	chr2:20646043-20652533	HUVEC	blood vessel:	n/a	n/a
18	E2F6	chr2:20646725-20647986	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr2:20646545-20648046	GM12891	blood:	n/a	n/a
20	POLR2A	chr2:20646427-20648084	GM19193	blood:	n/a	n/a
21	POLR2A	chr2:20646266-20651620	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr2:20646347-20648611	HUVEC	blood vessel:	n/a	n/a
23	RCOR1	chr2:20646392-20650844	HepG2	liver:	n/a	n/a
24	TAF1	chr2:20646380-20647670	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr2:20647146-20647979	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr2:20646356-20648978	Hela-S3	cervix:	n/a	n/a
27	PML	chr2:20647499-20648347	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:20645918-20651649	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr2:20647062-20647962	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:20646294-20651502	MCF-7	breast:	n/a	n/a
31	HEY1	chr2:20645541-20650862	HepG2	liver:	n/a	chr2:20646608-20646623
32	MYBL2	chr2:20646154-20651084	HepG2	liver:	n/a	n/a
33	CTCF	chr2:20647400-20647550	NHEK	skin:	n/a	n/a
34	SIN3AK20	chr2:20647466-20647797	SK-N-SH	brain:	n/a	n/a
35	YY1	chr2:20646359-20647944	A549	lung:	n/a	chr2:20646609-20646620 chr2:20647643-20647663
36	YY1	chr2:20646379-20647877	SK-N-SH_RA	brain:	n/a	chr2:20646609-20646620 chr2:20647643-20647663
37	POLR2A	chr2:20646006-20652601	HepG2	liver:	n/a	n/a
38	RFX5	chr2:20647289-20647601	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:20646333-20648100	PBDE	blood:	n/a	n/a
40	POLR2A	chr2:20647413-20647529	GM12878	blood:	n/a	n/a
41	RFX5	chr2:20646433-20647849	Hela-S3	cervix:	n/a	chr2:20646718-20646727
42	POLR2A	chr2:20645948-20651806	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr2:20646422-20647852	HL-60	blood:	n/a	n/a
44	EP300	chr2:20647475-20648008	HepG2	liver:	n/a	n/a
45	MAX	chr2:20647224-20647812	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:20646424-20648110	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:20645989-20652401	IMR90	lung:	n/a	n/a
48	SIN3AK20	chr2:20646159-20648886	MCF-7	breast:	n/a	n/a
49	CHD1	chr2:20647391-20647683	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAZ	chr2:20646022-20649127	IMR90	lung:	n/a	chr2:20646693-20646703

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20582061..20584787-chr2:20647277..20649666,2	MCF-7	breast:
2	chr2:20549379..20553875-chr2:20644345..20648832,13	MCF-7	breast:
3	chr2:20647037..20648776-chr6:43826398..43828925,2	MCF-7	breast:
4	chr2:20550911..20553369-chr2:20646204..20648737,2	K562	blood:
5	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
6	chr2:20647196..20649386-chr2:20825674..20827981,2	K562	blood:
7	chr2:20646857..20649701-chr2:20702827..20704331,2	K562	blood:
8	chr2:20647398..20650409-chr2:20654175..20656821,4	K562	blood:
9	chr2:20647262..20649198-chr3:105085481..105087426,2	MCF-7	breast:
10	chr2:20645830..20649178-chr2:20802657..20807893,7	MCF-7	breast:
11	chr2:20646773..20647721-chr6:144416345..144416949,2	Hela-S3	cervix:
12	chr2:20646534..20647520-chr5:892945..893546,2	Hela-S3	cervix:
13	chr2:20424066..20426931-chr2:20646792..20649592,2	MCF-7	breast:
14	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
15	chr2:20598069..20599864-chr2:20647082..20649646,2	MCF-7	breast:
16	chr2:20644186..20651576-chr2:20790196..20799394,18	MCF-7	breast:
17	chr1:200638704..200639686-chr2:20646913..20647537,2	Hela-S3	cervix:
18	chr17:57914924..57917331-chr2:20646962..20649237,2	MCF-7	breast:
19	chr2:20643596..20652981-chr2:20820571..20828990,20	MCF-7	breast:
20	chr2:20592640..20602218-chr2:20644635..20652468,15	MCF-7	breast:
21	chr2:20647080..20649987-chr2:27272850..27275008,2	MCF-7	breast:
22	chr2:20645526..20651779-chr2:20782666..20787622,12	MCF-7	breast:
23	chr2:20646900..20649686-chr2:20739028..20740892,2	MCF-7	breast:
24	chr16:68268541..68270954-chr2:20645662..20648627,2	MCF-7	breast:
25	chr2:20646395..20647585-chr2:85132266..85133418,3	Hela-S3	cervix:
26	chr2:20593621..20596225-chr2:20647006..20648525,2	K562	blood:
27	chr2:20646233..20647813-chr2:179315360..179316885,2	MCF-7	breast:
28	chr2:20645423..20650748-chr2:20698837..20705480,9	MCF-7	breast:
29	chr2:20646880..20648983-chr20:46681060..46683939,2	MCF-7	breast:
30	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
31	chr2:20574805..20576897-chr2:20646871..20649398,2	MCF-7	breast:
32	chr2:20548847..20552407-chr2:20645405..20649585,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228950	TF binding region
ENSG00000103067	Chromatin interaction
ENSG00000169976	Chromatin interaction
ENSG00000233416	Chromatin interaction
ENSG00000071539	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000252216	Chromatin interaction
ENSG00000212171	Chromatin interaction
ENSG00000170017	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000084693	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000034510	Chromatin interaction
ENSG00000269976	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000231636	Chromatin interaction
ENSG00000115884	Chromatin interaction
ENSG00000231948	Chromatin interaction
ENSG00000118197	Chromatin interaction
ENSG00000227047	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455830	chr2:20621404-20659862	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv581166	chr2:20621404-20659862	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
3	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
8	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv482049	chr2:20646835-20649200	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	74 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	chr2:20643600-20650000	Active TSS	Right Atrium	heart
2	chr2:20644600-20650000	Active TSS	Psoas Muscle	Psoas
3	chr2:20645000-20650600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:20645400-20647600	Active TSS	Aorta	Aorta
5	chr2:20645400-20648600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:20645600-20648400	Active TSS	Brain Anterior Caudate	brain
7	chr2:20645600-20650000	Active TSS	Brain Angular Gyrus	brain
8	chr2:20646000-20647600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:20646000-20647600	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr2:20646000-20648600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr2:20646000-20648600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:20646000-20648800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:20646000-20649000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:20646000-20649600	Active TSS	HSMMtube	muscle
15	chr2:20646000-20649800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:20646000-20650000	Active TSS	Ovary	ovary
17	chr2:20646000-20650200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:20646200-20647600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
19	chr2:20646200-20647600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr2:20646200-20647600	Active TSS	Esophagus	oesophagus
21	chr2:20646200-20647600	Active TSS	Lung	lung
22	chr2:20646200-20648400	Active TSS	Fetal Lung	lung
23	chr2:20646200-20648600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:20646200-20648600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:20646200-20648600	Active TSS	HSMM	muscle
26	chr2:20646200-20649000	Active TSS	Fetal Kidney	kidney
27	chr2:20646200-20649000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr2:20646200-20649000	Active TSS	Small Intestine	intestine
29	chr2:20646400-20647600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:20646400-20647600	Active TSS	Primary monocytes fromperipheralblood	blood
31	chr2:20646400-20647600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:20646400-20647600	Active TSS	Fetal Intestine Small	intestine
33	chr2:20646400-20647600	Active TSS	Fetal Muscle Leg	muscle
34	chr2:20646400-20647600	Active TSS	Fetal Stomach	stomach
35	chr2:20646400-20647600	Active TSS	Spleen	Spleen
36	chr2:20646400-20648000	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr2:20646400-20648400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:20646400-20648400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:20646400-20648400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:20646400-20648400	Active TSS	Placenta	Placenta
41	chr2:20646400-20648400	Active TSS	Hela-S3	cervix
42	chr2:20646400-20648400	Active TSS	Osteobl	bone
43	chr2:20646400-20648600	Active TSS	NH-A	brain
44	chr2:20646400-20649000	Bivalent/Poised TSS	HepG2	liver
45	chr2:20646400-20649200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:20646400-20649200	Active TSS	Fetal Intestine Large	intestine
47	chr2:20646400-20649400	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:20646400-20649400	Active TSS	Pancreas	Pancrea
49	chr2:20646600-20647600	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr2:20646600-20647600	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--

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