Variant report

Variant	rs12536382
Chromosome Location	chr7:127228728-127228729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127227965-127229173	ProgFib	skin:	n/a	n/a
2	RCOR1	chr7:127227637-127229436	IMR90	lung:	n/a	n/a
3	HEY1	chr7:127228036-127229497	K562	blood:	n/a	chr7:127229239-127229254 chr7:127228187-127228202 chr7:127229248-127229263 chr7:127228220-127228235
4	ZBTB7A	chr7:127228062-127229304	ECC-1	luminal epithelium:	n/a	n/a
5	JUND	chr7:127227965-127229242	K562	blood:	n/a	n/a
6	YY1	chr7:127228113-127228811	K562	blood:	n/a	chr7:127228181-127228192 chr7:127228190-127228201
7	MAX	chr7:127227763-127229310	HepG2	liver:	n/a	n/a
8	CREB1	chr7:127228079-127229330	K562	blood:	n/a	n/a
9	PML	chr7:127227992-127229312	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:127227872-127228778	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr7:127228152-127228794	HepG2	liver:	n/a	chr7:127228181-127228192 chr7:127228190-127228201
12	E2F6	chr7:127228210-127229335	H1-hESC	embryonic stem cell:	n/a	chr7:127228577-127228585 chr7:127228234-127228249 chr7:127228938-127228953
13	E2F4	chr7:127228075-127229304	K562	blood:	n/a	chr7:127228577-127228585 chr7:127228234-127228249 chr7:127228938-127228953
14	CHD2	chr7:127227920-127229264	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:127228093-127228756	NB4	blood:	n/a	n/a
16	MAX	chr7:127228397-127229192	K562	blood:	n/a	n/a
17	GABPA	chr7:127228150-127228829	K562	blood:	n/a	n/a
18	MAX	chr7:127228236-127229258	K562	blood:	n/a	n/a
19	MAX	chr7:127227914-127229287	K562	blood:	n/a	n/a
20	EGR1	chr7:127228231-127228820	GM12878	blood:	n/a	n/a
21	HEY1	chr7:127228024-127228746	HepG2	liver:	n/a	chr7:127228187-127228202 chr7:127228220-127228235
22	MAX	chr7:127228308-127229315	A549	lung:	n/a	n/a
23	TBP	chr7:127227967-127229200	K562	blood:	n/a	n/a
24	POLR2A	chr7:127228121-127229241	GM12892	blood:	n/a	n/a
25	SMC3	chr7:127228144-127229273	Hela-S3	cervix:	n/a	chr7:127229017-127229027 chr7:127228184-127228194
26	RCOR1	chr7:127228443-127229072	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:127228081-127228731	HCT-116	colon:	n/a	n/a
28	POLR2A	chr7:127228100-127229129	K562	blood:	n/a	n/a
29	GATA3	chr7:127228702-127229346	MCF-7	breast:	n/a	n/a
30	TAF1	chr7:127228158-127229087	K562	blood:	n/a	n/a
31	CTCF	chr7:127228212-127229397	K562	blood:	n/a	chr7:127229014-127229027
32	POLR2A	chr7:127227970-127229711	K562	blood:	n/a	n/a
33	SMARCB1	chr7:127227767-127229392	Hela-S3	cervix:	n/a	n/a
34	MAZ	chr7:127227834-127229270	K562	blood:	n/a	n/a
35	CTCF	chr7:127228595-127229530	HCT-116	colon:	n/a	chr7:127229014-127229027
36	TAF1	chr7:127228156-127228739	HepG2	liver:	n/a	n/a
37	POLR2A	chr7:127228127-127229382	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr7:127228131-127228775	HL-60	blood:	n/a	n/a
39	POLR2A	chr7:127227988-127228846	HUVEC	blood vessel:	n/a	n/a
40	EGR1	chr7:127228020-127229344	HCT-116	colon:	n/a	n/a
41	SMARCC1	chr7:127227896-127229396	Hela-S3	cervix:	n/a	n/a
42	EGR1	chr7:127228085-127228904	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr7:127227957-127228748	A549	lung:	n/a	n/a
44	ZNF143	chr7:127228254-127229258	GM12878	blood:	n/a	n/a
45	CTCF	chr7:127228719-127229353	MCF-7	breast:	n/a	chr7:127229014-127229027
46	MXI1	chr7:127228112-127228750	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:127228132-127228733	GM12878	blood:	n/a	n/a
48	POLR2A	chr7:127227915-127229288	U87	brain:	n/a	n/a
49	TBP	chr7:127227841-127229305	H1-hESC	embryonic stem cell:	n/a	n/a
50	EGR1	chr7:127228165-127229150	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:127228685-127228735	GM12892	blood:	n/a
2	chr7:127228685-127228735	HL-60	blood:	n/a
3	chr7:127228685-127228735	HRCEpiC	kidney:	n/a
4	chr7:127228685-127228735	HRPEpiC	eye:	n/a
5	chr7:127228685-127228735	HCPEpiC	choroid plexus:	n/a
6	chr7:127228685-127228735	HCT-116	colon:	n/a
7	chr7:127228685-127228735	ECC-1	luminal epithelium:	n/a
8	chr7:127228685-127228735	HCF	heart:	n/a
9	chr7:127228685-127228735	AG04449	skin:	fetal
10	chr7:127228685-127228735	HMEC	breast:	n/a
11	chr7:127228685-127228735	SKMC	muscle:	n/a
12	chr7:127228685-127228735	PrEC	prostate:	n/a
13	chr7:127228685-127228735	SK-N-MC	brain:	n/a
14	chr7:127228685-127228735	GM06990	blood:	n/a
15	chr7:127228685-127228735	NHBE	bronchial:	n/a
16	chr7:127228685-127228735	SAEC	small airway:	n/a
17	chr7:127228685-127228735	CMK	blood:	n/a
18	chr7:127228685-127228735	H1-hESC	embryonic stem cell:	embryo
19	chr7:127228685-127228735	HCM	heart:	n/a
20	chr7:127228685-127228735	PFSK-1	brain:	n/a
21	chr7:127228685-127228735	IMR90	lung:	fetal
22	chr7:127228685-127228735	SK-N-SH_RA	brain:	n/a
23	chr7:127228685-127228735	GM19239	blood:	n/a
24	chr7:127228685-127228735	NB4	blood:	n/a
25	chr7:127228685-127228735	MCF10A-Er-Src	breast:	n/a
26	chr7:127228685-127228735	AG09309	skin:	n/a
27	chr7:127228685-127228735	Hela-S3	cervix:	n/a
28	chr7:127228685-127228735	Hepatocyte	liver:	n/a
29	chr7:127228685-127228735	NH-A	brain:	n/a
30	chr7:127228685-127228735	HEEpiC	esophagus:	n/a
31	chr7:127228685-127228735	NHDF-neo	bronchial:	n/a
32	chr7:127228685-127228735	AG10803	skin:	n/a
33	chr7:127228685-127228735	GM12891	blood:	n/a
34	chr7:127228685-127228735	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:127228685-127228735	Jurkat	blood:	n/a
36	chr7:127228685-127228735	NT2-D1	testis:	n/a
37	chr7:127228685-127228735	RPTEC	kidney:	n/a
38	chr7:127228685-127228735	K562	blood:	n/a
39	chr7:127228685-127228735	HIPEpiC	eye:	n/a
40	chr7:127228685-127228735	BJ	skin:	n/a
41	chr7:127228685-127228735	U87	brain:	n/a
42	chr7:127228685-127228735	AG09319	gingival:	n/a
43	chr7:127228685-127228735	SK-N-SH	brain:	n/a
44	chr7:127228685-127228735	A549	lung:	n/a
45	chr7:127228685-127228735	HRE	kidney:	n/a
46	chr7:127228685-127228735	AG04450	lung:	fetal
47	chr7:127228685-127228735	ovcar-3	ovarian:	n/a
48	chr7:127228685-127228735	MCF-7	breast:	n/a
49	chr7:127228685-127228735	HAEpiC	amniotic membrane:	n/a
50	chr7:127228685-127228735	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:127226810..127231119-chr7:127290066..127293801,4	MCF-7	breast:
2	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
3	chr7:127228140..127230167-chr7:127331408..127333962,2	K562	blood:
4	chr7:127227908..127231054-chr7:127231482..127236620,11	MCF-7	breast:
5	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
6	chr7:127226125..127229974-chr7:127289784..127293571,8	MCF-7	breast:
7	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
8	chr11:104838939..104839536-chr7:127228342..127228894,2	Hela-S3	cervix:
9	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:
10	chr7:127223867..127227193-chr7:127227909..127230578,5	MCF-7	breast:

No data

Variant related genes	Relation type
GCC1	TF binding region
FSCN3	TF binding region
ARF5	TF binding region
FSCN3	CpG island
ARF5	CpG island
GCC1	CpG island
ENSG00000048405	Chromatin interaction
ENSG00000106328	Chromatin interaction
ENSG00000196954	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10487494	0.90[ASW][hapmap]
rs1419428	0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs2073561	0.85[CHB][hapmap]
rs34029720	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3735641	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3735642	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs3735644	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs62483173	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs806212	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs989099	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs989100	0.85[CHB][hapmap];0.84[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr7:127226400-127228800	Weak transcription	Fetal Heart	heart
2	chr7:127227600-127229000	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr7:127227600-127229000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:127227600-127229200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:127227600-127229200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:127227600-127229200	Active TSS	Primary T cells from cord blood	blood
7	chr7:127227600-127229400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:127227800-127229000	Active TSS	Hela-S3	cervix
9	chr7:127227800-127229000	Active TSS	HSMMtube	muscle
10	chr7:127227800-127229200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:127227800-127229200	Active TSS	Aorta	Aorta
12	chr7:127227800-127229400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:127227800-127229600	Active TSS	Fetal Brain Female	brain
14	chr7:127227800-127229600	Active TSS	Fetal Kidney	kidney
15	chr7:127227800-127229600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:127227800-127229800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr7:127227800-127229800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr7:127228000-127228800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:127228000-127228800	Active TSS	Fetal Intestine Small	intestine
20	chr7:127228000-127229000	Active TSS	Brain Cingulate Gyrus	brain
21	chr7:127228000-127229000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr7:127228000-127229000	Active TSS	Esophagus	oesophagus
23	chr7:127228000-127229000	Active TSS	Gastric	stomach
24	chr7:127228000-127229000	Active TSS	Ovary	ovary
25	chr7:127228000-127229000	Active TSS	Rectal Smooth Muscle	rectum
26	chr7:127228000-127229000	Active TSS	Right Ventricle	heart
27	chr7:127228000-127229000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr7:127228000-127229000	Active TSS	Stomach Smooth Muscle	stomach
29	chr7:127228000-127229000	Bivalent/Poised TSS	HepG2	liver
30	chr7:127228000-127229200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr7:127228000-127229200	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr7:127228000-127229200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:127228000-127229200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:127228000-127229200	Active TSS	Colon Smooth Muscle	Colon
35	chr7:127228000-127229200	Active TSS	A549	lung
36	chr7:127228000-127229400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:127228000-127229400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:127228000-127229400	Active TSS	Small Intestine	intestine
39	chr7:127228000-127229600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr7:127228000-127229600	Active TSS	Psoas Muscle	Psoas
41	chr7:127228000-127229600	Active TSS	NHDF-Ad	bronchial
42	chr7:127228000-127229800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr7:127228000-127229800	Active TSS	HSMM	muscle
44	chr7:127228200-127228800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:127228200-127228800	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr7:127228200-127228800	Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr7:127228200-127228800	Active TSS	Primary B cells from peripheral blood	blood
48	chr7:127228200-127228800	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr7:127228200-127228800	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr7:127228200-127228800	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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