Variant report

Variant	rs34786382
Chromosome Location	chr7:137620844-137620845
allele	C/T
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	UBTF	chr7:137620606-137621033	K562	blood:	n/a	n/a
2	JUND	chr7:137620148-137620905	K562	blood:	n/a	n/a
3	UBTF	chr7:137620535-137620892	K562	blood:	n/a	n/a
4	MYC	chr7:137620540-137621140	NB4	blood:	n/a	n/a
5	USF2	chr7:137620656-137620901	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr7:137619615-137620988	K562	blood:	n/a	n/a
7	MAX	chr7:137620558-137621403	NB4	blood:	n/a	n/a
8	SPI1	chr7:137620593-137620845	GM12891	blood:	n/a	chr7:137620707-137620720
9	ELF1	chr7:137620564-137620959	K562	blood:	n/a	n/a
10	RCOR1	chr7:137620171-137621018	K562	blood:	n/a	n/a
11	NR2F2	chr7:137620067-137621286	K562	blood:	n/a	chr7:137620735-137620750
12	ATF1	chr7:137620618-137620937	K562	blood:	n/a	n/a
13	CTCF	chr7:137620321-137620886	K562	blood:	n/a	n/a
14	HCFC1	chr7:137620504-137621123	K562	blood:	n/a	n/a
15	EP300	chr7:137619880-137620937	K562	blood:	n/a	chr7:137620708-137620717
16	TBP	chr7:137620656-137620924	K562	blood:	n/a	n/a
17	NFIC	chr7:137619849-137620930	GM12878	blood:	n/a	n/a
18	MYC	chr7:137620218-137620935	K562	blood:	n/a	n/a
19	IRF1	chr7:137618870-137620870	K562	blood:	n/a	chr7:137620102-137620116 chr7:137620105-137620118 chr7:137620106-137620116 chr7:137619175-137619185 chr7:137620105-137620116 chr7:137620106-137620120 chr7:137620105-137620118 chr7:137620105-137620118 chr7:137620636-137620648 chr7:137620104-137620115 chr7:137619173-137619186 chr7:137620100-137620117 chr7:137619175-137619186
20	POLR2A	chr7:137620811-137621005	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:137620402-137621255	HL-60	blood:	n/a	n/a
22	RUNX3	chr7:137620578-137620899	GM12878	blood:	n/a	n/a
23	SPI1	chr7:137620475-137620989	HL-60	blood:	n/a	chr7:137620707-137620720
24	MAX	chr7:137620572-137620944	K562	blood:	n/a	n/a
25	EGR1	chr7:137620652-137621080	MCF-7	breast:	n/a	chr7:137620707-137620716 chr7:137620865-137620880
26	MAZ	chr7:137620568-137620927	K562	blood:	n/a	n/a
27	CHD1	chr7:137620165-137620982	GM12878	blood:	n/a	n/a
28	NR2F2	chr7:137620514-137620931	K562	blood:	n/a	chr7:137620735-137620750
29	USF1	chr7:137620597-137620970	K562	blood:	n/a	n/a
30	WRNIP1	chr7:137620678-137620878	GM12878	blood:	n/a	n/a
31	RUNX3	chr7:137620554-137620881	GM12878	blood:	n/a	n/a
32	BHLHE40	chr7:137620574-137621144	K562	blood:	n/a	n/a
33	MAX	chr7:137620587-137620897	K562	blood:	n/a	n/a
34	TEAD4	chr7:137620131-137621262	K562	blood:	n/a	n/a
35	NR2F2	chr7:137620645-137621127	MCF-7	breast:	n/a	chr7:137620735-137620750
36	IRF1	chr7:137618919-137620986	K562	blood:	n/a	chr7:137620102-137620116 chr7:137620105-137620118 chr7:137620106-137620116 chr7:137619175-137619185 chr7:137620105-137620116 chr7:137620106-137620120 chr7:137620105-137620118 chr7:137620105-137620118 chr7:137620636-137620648 chr7:137620104-137620115 chr7:137619173-137619186 chr7:137620100-137620117 chr7:137619175-137619186
37	POLR2A	chr7:137617304-137621222	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:137620160..137621730-chr7:137691300..137693565,2	MCF-7	breast:
2	chr7:137619246..137622854-chr7:137682713..137686861,5	K562	blood:
3	chr7:137619156..137621856-chr7:137650615..137653310,2	MCF-7	breast:
4	chr7:137620440..137622660-chr7:137629916..137631573,2	MCF-7	breast:
5	chr7:137620168..137621846-chr7:137623700..137626526,2	K562	blood:
6	chr7:137619037..137621217-chr7:137637185..137638746,2	MCF-7	breast:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000237243	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10224250	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488443	0.82[ASN][1000 genomes]
rs12533090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536683	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228781	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245803	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17275136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100060	0.86[AFR][1000 genomes]
rs34814437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35503163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988674	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36086400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732274	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777412	0.83[AMR][1000 genomes]
rs7812168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:137613200-137621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:137614800-137621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
5	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
6	chr7:137616200-137622200	Enhancers	Fetal Intestine Large	intestine
7	chr7:137617000-137622200	Enhancers	Small Intestine	intestine
8	chr7:137617000-137622400	Enhancers	Colon Smooth Muscle	Colon
9	chr7:137617200-137622200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:137617400-137622200	Enhancers	Fetal Heart	heart
12	chr7:137617400-137622200	Enhancers	HSMM	muscle
13	chr7:137617400-137622400	Enhancers	Fetal Muscle Leg	muscle
14	chr7:137617600-137621200	Genic enhancers	HepG2	liver
15	chr7:137617600-137622200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:137617600-137622200	Enhancers	Brain Anterior Caudate	brain
17	chr7:137618200-137621000	Weak transcription	Liver	Liver
18	chr7:137618200-137621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:137618200-137621400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:137618200-137622400	Enhancers	HMEC	breast
21	chr7:137618200-137622600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:137618200-137622600	Enhancers	Osteobl	bone
23	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:137618400-137621000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:137618400-137622000	Enhancers	Fetal Thymus	thymus
26	chr7:137618400-137622400	Enhancers	NHLF	lung
27	chr7:137618600-137621000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:137618600-137621400	Flanking Active TSS	GM12878-XiMat	blood
29	chr7:137618600-137627600	Weak transcription	A549	lung
30	chr7:137618600-137628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:137618800-137621000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:137618800-137621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:137618800-137621200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:137618800-137621400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr7:137618800-137622400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:137618800-137622400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr7:137619000-137621200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:137619200-137621200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:137619200-137621600	Enhancers	Fetal Intestine Small	intestine
40	chr7:137619400-137621000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr7:137619400-137621000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr7:137619400-137621000	Weak transcription	Lung	lung
43	chr7:137619400-137621200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr7:137619400-137622400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:137619400-137628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:137619600-137621000	Weak transcription	Brain Angular Gyrus	brain
47	chr7:137619600-137621000	Weak transcription	Right Ventricle	heart
48	chr7:137619600-137621200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr7:137619600-137622000	Enhancers	Colonic Mucosa	Colon
50	chr7:137619800-137621000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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