Variant report

Variant	rs6703198
Chromosome Location	chr1:170116242-170116243
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	chr1:170116014-170116299	H1-neurons	neurons:	n/a	n/a
2	RUNX3	chr1:170116041-170116385	GM12878	blood:	n/a	n/a
3	ZNF143	chr1:170116179-170116301	GM12878	blood:	n/a	n/a
4	TCF7L2	chr1:170114729-170116321	HEK293	kidney:	n/a	chr1:170116141-170116157

Variant related genes	Relation type
MIR3119-1	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]
rs11799351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799803	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11800956	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11805430	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11806707	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11807053	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12117197	1.00[JPT][hapmap]
rs12117892	1.00[JPT][hapmap]
rs12120443	1.00[JPT][hapmap]
rs12131740	1.00[JPT][hapmap]
rs12134995	1.00[JPT][hapmap]
rs12135070	1.00[JPT][hapmap]
rs17345810	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349942	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350032	1.00[MEX][hapmap]
rs17350053	1.00[MEX][hapmap]
rs6671761	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7528074	0.81[AMR][1000 genomes];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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170114200-170116800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:170114200-170117000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:170114600-170116800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:170114600-170117000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:170114800-170116400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:170114800-170116400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr1:170114800-170116800	Enhancers	Primary T cells from cord blood	blood
8	chr1:170115000-170116400	Active TSS	Right Atrium	heart
9	chr1:170115000-170116600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:170115000-170116600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr1:170115000-170116800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:170115000-170116800	Flanking Active TSS	Dnd41	blood
13	chr1:170115400-170119200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:170115600-170117800	Weak transcription	Osteobl	bone
15	chr1:170115800-170116800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:170116000-170116600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
17	chr1:170116000-170116600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr1:170116200-170116400	Enhancers	Brain Germinal Matrix	brain
19	chr1:170116200-170117200	Enhancers	Fetal Heart	heart
20	chr1:170116200-170118600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:170116200-170119200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:170116200-170119200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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