Variant report

Variant	rs888189
Chromosome Location	chr7:107851747-107851748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr7:107851647-107852232	GM12891	blood:	n/a	n/a
2	FOSL2	chr7:107851538-107852791	A549	lung:	n/a	n/a
3	SP1	chr7:107851653-107852715	A549	lung:	n/a	n/a
4	STAT5A	chr7:107851722-107852314	K562	blood:	n/a	n/a
5	EP300	chr7:107851702-107852788	A549	lung:	n/a	n/a
6	CBX3	chr7:107851184-107852710	K562	blood:	n/a	n/a
7	SIX5	chr7:107851464-107852544	A549	lung:	n/a	n/a
8	MAX	chr7:107851640-107852661	A549	lung:	n/a	n/a
9	SP1	chr7:107851664-107852765	A549	lung:	n/a	n/a
10	TEAD4	chr7:107851693-107852277	K562	blood:	n/a	n/a
11	JUN	chr7:107851640-107852414	K562	blood:	n/a	n/a
12	BCL3	chr7:107851709-107852829	A549	lung:	n/a	n/a
13	BCL3	chr7:107851727-107852844	A549	lung:	n/a	n/a
14	REST	chr7:107851672-107852411	A549	lung:	n/a	n/a
15	PAX5	chr7:107851723-107852705	GM12878	blood:	n/a	n/a
16	E2F6	chr7:107851631-107852400	A549	lung:	n/a	chr7:107852053-107852064
17	HDAC2	chr7:107851740-107852205	K562	blood:	n/a	n/a
18	KAP1	chr7:107851262-107852420	K562	blood:	n/a	n/a
19	CBX3	chr7:107851640-107852505	K562	blood:	n/a	n/a
20	GATA3	chr7:107851674-107852953	A549	lung:	n/a	n/a
21	NR2F2	chr7:107851597-107852346	K562	blood:	n/a	n/a
22	JUN	chr7:107851739-107852238	K562	blood:	n/a	n/a
23	SETDB1	chr7:107851719-107852237	K562	blood:	n/a	n/a
24	MAX	chr7:107851724-107852352	K562	blood:	n/a	n/a
25	NR3C1	chr7:107851733-107852535	A549	lung:	n/a	n/a
26	TCF12	chr7:107851282-107852843	A549	lung:	n/a	n/a
27	EP300	chr7:107851584-107852788	A549	lung:	n/a	n/a
28	TRIM28	chr7:107851617-107852438	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107851104..107853420-chr7:108092854..108094489,2	MCF-7	breast:

No data

Variant related genes	Relation type
NRCAM	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1155	0.81[EUR][1000 genomes]
rs1269621	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1269622	0.97[ASN][1000 genomes]
rs1269623	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1269625	0.94[ASN][1000 genomes]
rs1269628	0.83[ASN][1000 genomes]
rs1269629	0.81[ASN][1000 genomes]
rs1269642	0.90[EUR][1000 genomes]
rs1269650	0.87[EUR][1000 genomes]
rs1269651	0.86[EUR][1000 genomes]
rs1269655	0.87[EUR][1000 genomes]
rs1269656	0.83[EUR][1000 genomes]
rs1269659	0.82[EUR][1000 genomes]
rs36065373	0.94[ASN][1000 genomes]
rs370133	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs403622	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs405945	0.89[ASN][1000 genomes]
rs422011	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	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
6	nsv888941	chr7:107796150-107863395	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:107818200-107851800	Weak transcription	HSMMtube	muscle
3	chr7:107820600-107867400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:107821000-107852200	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:107828000-107852000	Weak transcription	Pancreas	Pancrea
6	chr7:107830400-107857200	Weak transcription	Fetal Brain Female	brain
7	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:107836800-107852000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:107841200-107851800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:107841800-107851800	Weak transcription	Placenta	Placenta
11	chr7:107843600-107852000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:107844600-107853200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:107846400-107852200	Weak transcription	Thymus	Thymus
14	chr7:107847400-107852000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:107847400-107854000	Weak transcription	Brain Germinal Matrix	brain
16	chr7:107847400-107854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:107847600-107857400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:107847600-107863200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:107849400-107863000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:107850000-107851800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:107850000-107851800	Weak transcription	HepG2	liver
22	chr7:107850400-107851800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:107851000-107852400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:107851200-107851800	Enhancers	Hela-S3	cervix
25	chr7:107851200-107852200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr7:107851200-107852400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:107851200-107852600	Transcr. at gene 5' and 3'	A549	lung
28	chr7:107851200-107852600	Enhancers	NHEK	skin
29	chr7:107851200-107852800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:107851200-107852800	Enhancers	HMEC	breast
31	chr7:107851200-107852800	ZNF genes & repeats	K562	blood
32	chr7:107851200-107853000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:107851200-107853400	Enhancers	GM12878-XiMat	blood
34	chr7:107851400-107851800	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr7:107851400-107852000	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr7:107851400-107852400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:107851400-107852600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:107851400-107853400	Enhancers	HUVEC	blood vessel
39	chr7:107851600-107852000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:107851600-107852200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:107851600-107852600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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