Variant report

Variant	rs1269642
Chromosome Location	chr7:107887479-107887480
allele	G/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	EP300	chr7:107886125-107887566	A549	lung:	n/a	chr7:107887022-107887036 chr7:107886142-107886156 chr7:107886292-107886306
2	MXI1	chr7:107887412-107887572	K562	blood:	n/a	n/a
3	TRIM28	chr7:107886335-107887484	K562	blood:	n/a	n/a
4	MAX	chr7:107886168-107887682	A549	lung:	n/a	n/a
5	RCOR1	chr7:107886604-107887512	K562	blood:	n/a	n/a
6	ZNF143	chr7:107886461-107887494	K562	blood:	n/a	n/a
7	NR2F2	chr7:107886328-107887499	K562	blood:	n/a	chr7:107886916-107886931
8	MAX	chr7:107886519-107887543	K562	blood:	n/a	n/a
9	MAX	chr7:107886079-107887723	A549	lung:	n/a	n/a
10	BCL3	chr7:107886072-107887544	A549	lung:	n/a	n/a
11	TEAD4	chr7:107886215-107887535	K562	blood:	n/a	n/a
12	MAFK	chr7:107886310-107887722	K562	blood:	n/a	chr7:107886888-107886897 chr7:107886890-107886901
13	SP1	chr7:107886093-107887490	A549	lung:	n/a	n/a
14	FOSL2	chr7:107886039-107887485	A549	lung:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
15	CUX1	chr7:107886280-107887848	K562	blood:	n/a	n/a
16	BCL3	chr7:107886365-107887499	A549	lung:	n/a	n/a
17	JUN	chr7:107886482-107887521	K562	blood:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
18	TCF12	chr7:107886101-107887525	A549	lung:	n/a	n/a
19	MAX	chr7:107886482-107887530	ECC-1	luminal epithelium:	n/a	n/a
20	SIX5	chr7:107886048-107887777	A549	lung:	n/a	n/a
21	JUN	chr7:107886440-107887573	K562	blood:	n/a	chr7:107886883-107886894 chr7:107886886-107886896 chr7:107886887-107886895 chr7:107886885-107886897 chr7:107887051-107887060 chr7:107886953-107886960 chr7:107886707-107886718 chr7:107886886-107886896
22	MAFF	chr7:107886334-107887745	K562	blood:	n/a	chr7:107886953-107886971
23	CBX3	chr7:107886220-107887543	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107885403..107887866-chr7:108208741..108211380,3	K562	blood:
2	chr7:107886563..107889560-chr7:107893965..107897090,3	MCF-7	breast:
3	chr7:107887211..107889896-chr7:108095081..108098683,4	MCF-7	breast:
4	chr7:107880432..107884512-chr7:107884667..107887859,3	MCF-7	breast:
5	chr7:107885764..107888071-chr7:107990459..107993788,3	MCF-7	breast:
6	chr7:107885444..107889446-chr7:107936320..107941216,4	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000177683	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000091129	Chromatin interaction
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1155	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1269621	0.92[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes]
rs1269622	0.81[AMR][1000 genomes]
rs1269625	0.83[AMR][1000 genomes]
rs1269628	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1269629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1269634	0.80[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1269639	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1269640	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1269641	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1269643	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1269645	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1269649	0.80[AMR][1000 genomes]
rs1269650	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1269651	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1269655	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1269656	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1269658	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs1269659	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36065373	0.80[AMR][1000 genomes]
rs370133	0.92[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3819747	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs403622	0.84[EUR][1000 genomes]
rs405945	0.85[CHB][hapmap];0.80[AMR][1000 genomes]
rs422011	0.80[AMR][1000 genomes]
rs6970096	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs888189	0.90[EUR][1000 genomes]
rs926146	0.92[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107884800-107890600	Weak transcription	Brain Substantia Nigra	brain
2	chr7:107885600-107888400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:107885600-107889400	Enhancers	Osteobl	bone
4	chr7:107885800-107887600	Flanking Active TSS	A549	lung
5	chr7:107885800-107887600	Enhancers	NHLF	lung
6	chr7:107885800-107888400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:107886000-107887600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:107886000-107891200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr7:107886200-107887600	Enhancers	Hela-S3	cervix
10	chr7:107886200-107887800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:107886200-107889400	Enhancers	HMEC	breast
12	chr7:107886200-107889600	Enhancers	HUVEC	blood vessel
13	chr7:107886400-107887600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:107886400-107887600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:107886400-107887600	Enhancers	Brain Anterior Caudate	brain
16	chr7:107886400-107887600	Enhancers	HepG2	liver
17	chr7:107886400-107887800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:107886400-107887800	Enhancers	Fetal Intestine Large	intestine
19	chr7:107886400-107888000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:107886400-107888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:107886400-107888400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:107886400-107888400	Enhancers	NHEK	skin
23	chr7:107886600-107887600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:107886600-107887600	Enhancers	Esophagus	oesophagus
25	chr7:107886600-107887600	Enhancers	Psoas Muscle	Psoas
26	chr7:107886600-107887800	Enhancers	Brain Hippocampus Middle	brain
27	chr7:107886600-107889400	Enhancers	NH-A	brain
28	chr7:107886800-107887600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:107886800-107887600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr7:107886800-107887800	Enhancers	HSMMtube	muscle
31	chr7:107886800-107888600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:107886800-107889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:107886800-107890200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:107887200-107888200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:107887200-107888400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:107887200-107888800	Weak transcription	Fetal Kidney	kidney
37	chr7:107887200-107889000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:107887200-107889200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:107887200-107890600	Weak transcription	Right Atrium	heart
40	chr7:107887200-107891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:107887400-107887800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:107887400-107887800	Enhancers	NHDF-Ad	bronchial
43	chr7:107887400-107888200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:107887400-107888400	Enhancers	HSMM	muscle
45	chr7:107887400-107888600	Enhancers	K562	blood
46	chr7:107887400-107889000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:107887400-107889800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:107887400-107890200	Weak transcription	Fetal Intestine Small	intestine
49	chr7:107887400-107892000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:107887400-107892000	Weak transcription	Pancreas	Pancrea

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