Variant report

Variant	rs6970096
Chromosome Location	chr7:107881205-107881206
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	EP300	chr7:107877067-107881295	SK-N-SH	brain:	n/a	chr7:107880541-107880550 chr7:107880543-107880557 chr7:107880658-107880672

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107880559..107882949-chr7:107899019..107901919,2	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12531607	0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs12670135	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1269621	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs1269628	0.84[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs1269629	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1269634	0.84[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1269639	0.88[ASN][1000 genomes]
rs1269640	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1269641	0.88[ASN][1000 genomes]
rs1269642	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1269643	0.92[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17155196	0.84[MEX][hapmap]
rs17155335	0.82[AMR][1000 genomes]
rs2284284	0.84[MEX][hapmap]
rs370133	0.84[JPT][hapmap]
rs3819747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs422011	0.81[CHD][hapmap]
rs55843101	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs926146	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107830400-107886400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:107860600-107886600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:107871200-107886400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:107874800-107886200	Weak transcription	HSMMtube	muscle
5	chr7:107875800-107881600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:107876400-107886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:107877000-107885600	Weak transcription	HSMM	muscle
8	chr7:107877000-107886200	Weak transcription	HMEC	breast
9	chr7:107877800-107884600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:107877800-107884600	Weak transcription	Fetal Intestine Small	intestine
11	chr7:107877800-107886400	Weak transcription	Pancreas	Pancrea
12	chr7:107878400-107885200	Weak transcription	Fetal Intestine Large	intestine
13	chr7:107880400-107882800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:107880400-107884400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:107880400-107886200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:107880600-107884600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:107880600-107884600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:107880600-107885200	Weak transcription	K562	blood
19	chr7:107880600-107887000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:107880800-107883600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:107880800-107886600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:107881000-107881600	Flanking Active TSS	A549	lung
23	chr7:107881000-107886200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:107881200-107881600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:107881200-107884400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:107881200-107886000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:107881200-107886400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:107881200-107886400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:107881200-107886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:107881200-107886400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:107881200-107886600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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