Variant report

Variant	rs6935948
Chromosome Location	chr6:13180892-13180893
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	POLR2A	chr6:13180793-13181149	H1-neurons	neurons:	n/a	n/a
2	REST	chr6:13180802-13181183	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
PHACTR1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11757278	0.81[LWK][hapmap];0.91[YRI][hapmap]
rs16869298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1887846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[ASN][1000 genomes]
rs28451621	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6922797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934799	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7757631	1.00[TSI][hapmap]
rs7757960	1.00[TSI][hapmap]
rs7771038	1.00[JPT][hapmap]
rs9395520	0.91[YRI][hapmap]
rs9473641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9473643	0.86[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	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv883450	chr6:13166341-13196011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13153800-13184200	Weak transcription	Aorta	Aorta
2	chr6:13159200-13181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:13163600-13183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:13164800-13183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:13164800-13184400	Weak transcription	Pancreas	Pancrea
6	chr6:13172800-13191800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:13176400-13183800	Weak transcription	Lung	lung
8	chr6:13176400-13191200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:13176600-13181400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:13178400-13184400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:13178600-13181400	Weak transcription	Brain Angular Gyrus	brain
12	chr6:13178600-13183800	Weak transcription	Fetal Heart	heart
13	chr6:13178800-13181200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:13178800-13181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:13178800-13182000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:13178800-13184000	Weak transcription	Right Ventricle	heart
17	chr6:13178800-13187200	Weak transcription	Spleen	Spleen
18	chr6:13178800-13191400	Weak transcription	Left Ventricle	heart
19	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:13179000-13181200	Weak transcription	Brain Substantia Nigra	brain
21	chr6:13179000-13181400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:13179200-13181400	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:13179200-13184800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:13179800-13181000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:13180400-13181400	Enhancers	Fetal Brain Female	brain
26	chr6:13180400-13182200	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:13180600-13181000	Enhancers	Brain Anterior Caudate	brain
28	chr6:13180600-13181600	Enhancers	Fetal Brain Male	brain
29	chr6:13180800-13181400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:13180800-13181400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:13180800-13181600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr6:13180800-13183600	Weak transcription	Brain Germinal Matrix	brain

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