Variant report

Variant	rs67456250
Chromosome Location	chr7:107887749-107887750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr7:107886280-107887848	K562	blood:	n/a	n/a
2	SIX5	chr7:107886048-107887777	A549	lung:	n/a	n/a
3	MAZ	chr7:107887745-107887802	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10464622	0.95[EUR][1000 genomes]
rs10464623	0.95[EUR][1000 genomes]
rs10464625	0.95[EUR][1000 genomes]
rs10464626	0.95[EUR][1000 genomes]
rs10464627	0.90[EUR][1000 genomes]
rs10464628	0.95[EUR][1000 genomes]
rs12665964	0.91[EUR][1000 genomes]
rs12667098	0.95[EUR][1000 genomes]
rs12667131	0.95[EUR][1000 genomes]
rs12667151	0.95[EUR][1000 genomes]
rs12667206	0.95[EUR][1000 genomes]
rs12669568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671199	0.85[EUR][1000 genomes]
rs12672376	0.90[EUR][1000 genomes]
rs12674151	0.95[EUR][1000 genomes]
rs12674313	0.81[EUR][1000 genomes]
rs16872448	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872449	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872472	1.00[EUR][1000 genomes]
rs17155207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17155253	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17155277	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17155280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17155301	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17155316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17155345	0.95[EUR][1000 genomes]
rs17155362	1.00[EUR][1000 genomes]
rs17155369	1.00[EUR][1000 genomes]
rs2072320	1.00[EUR][1000 genomes]
rs2272618	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299998	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2300001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300004	1.00[EUR][1000 genomes]
rs2300005	1.00[EUR][1000 genomes]
rs2300006	1.00[EUR][1000 genomes]
rs2300007	0.95[EUR][1000 genomes]
rs2300008	0.95[EUR][1000 genomes]
rs2300009	0.95[EUR][1000 genomes]
rs2300010	1.00[EUR][1000 genomes]
rs2300011	1.00[EUR][1000 genomes]
rs3750140	1.00[EUR][1000 genomes]
rs3753152	1.00[EUR][1000 genomes]
rs3817670	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55772998	1.00[EUR][1000 genomes]
rs58432175	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58523350	1.00[EUR][1000 genomes]
rs58799340	1.00[EUR][1000 genomes]
rs59173255	1.00[EUR][1000 genomes]
rs60503554	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61040788	1.00[EUR][1000 genomes]
rs61057696	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67592649	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67940074	0.95[EUR][1000 genomes]
rs6956041	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6956711	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964394	1.00[EUR][1000 genomes]
rs6966259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6970634	0.86[EUR][1000 genomes]
rs6978117	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73199578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73199594	0.95[EUR][1000 genomes]
rs73199595	0.95[EUR][1000 genomes]
rs73199599	0.95[EUR][1000 genomes]
rs73199600	0.95[EUR][1000 genomes]
rs73201503	1.00[EUR][1000 genomes]
rs73201504	1.00[EUR][1000 genomes]
rs73201511	1.00[EUR][1000 genomes]
rs73201512	1.00[EUR][1000 genomes]
rs73201513	1.00[EUR][1000 genomes]
rs73201515	1.00[EUR][1000 genomes]
rs73414373	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73727511	0.95[EUR][1000 genomes]
rs73727512	0.95[EUR][1000 genomes]
rs7777092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7777322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783944	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7784319	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7784353	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7785181	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7796457	1.00[EUR][1000 genomes]
rs9641405	1.00[EUR][1000 genomes]

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:47 , 50 per page) page: 1

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	chr7:107885800-107888400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:107886000-107891200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:107886200-107887800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:107886200-107889400	Enhancers	HMEC	breast
8	chr7:107886200-107889600	Enhancers	HUVEC	blood vessel
9	chr7:107886400-107887800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr7:107886400-107887800	Enhancers	Fetal Intestine Large	intestine
11	chr7:107886400-107888000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:107886400-107888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:107886400-107888400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:107886400-107888400	Enhancers	NHEK	skin
15	chr7:107886600-107887800	Enhancers	Brain Hippocampus Middle	brain
16	chr7:107886600-107889400	Enhancers	NH-A	brain
17	chr7:107886800-107887800	Enhancers	HSMMtube	muscle
18	chr7:107886800-107888600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:107886800-107889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:107886800-107890200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:107887200-107888200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:107887200-107888400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:107887200-107888800	Weak transcription	Fetal Kidney	kidney
24	chr7:107887200-107889000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:107887200-107889200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:107887200-107890600	Weak transcription	Right Atrium	heart
27	chr7:107887200-107891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:107887400-107887800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:107887400-107887800	Enhancers	NHDF-Ad	bronchial
30	chr7:107887400-107888200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:107887400-107888400	Enhancers	HSMM	muscle
32	chr7:107887400-107888600	Enhancers	K562	blood
33	chr7:107887400-107889000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:107887400-107889800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:107887400-107890200	Weak transcription	Fetal Intestine Small	intestine
36	chr7:107887400-107892000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:107887400-107892000	Weak transcription	Pancreas	Pancrea
38	chr7:107887400-107893800	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:107887400-107894000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:107887400-107925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:107887600-107888000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:107887600-107888200	Enhancers	A549	lung
43	chr7:107887600-107889000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:107887600-107889000	Weak transcription	Brain Anterior Caudate	brain
45	chr7:107887600-107889000	Weak transcription	HepG2	liver
46	chr7:107887600-107889400	Weak transcription	Psoas Muscle	Psoas
47	chr7:107887600-107890600	Weak transcription	Esophagus	oesophagus

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