Variant report

Variant	rs6912712
Chromosome Location	chr6:167174124-167174125
allele	A/C
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	CTCF	chr6:167174020-167174170	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:167172216..167176506-chr6:167180840..167185522,4	K562	blood:
2	chr6:167173252..167177821-chr6:167180840..167184779,4	K562	blood:
3	chr6:167173631..167176313-chr6:167188907..167191189,2	K562	blood:

Variant related genes	Relation type
RPS6KA2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13198549	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1964808	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs491700	0.85[EUR][1000 genomes]
rs637191	0.83[ASN][1000 genomes]
rs656938	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv482478	chr6:167071366-167265821	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv482525	chr6:167151805-167324406	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167168800-167180400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:167170400-167174200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:167170400-167174200	Enhancers	Thymus	Thymus
4	chr6:167170600-167174600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:167171200-167176200	Weak transcription	Spleen	Spleen
6	chr6:167171400-167174400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:167171400-167174600	Enhancers	Fetal Thymus	thymus
8	chr6:167171600-167174200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr6:167171800-167177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:167172000-167175600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:167172000-167180200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:167172000-167180400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:167172200-167177600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:167172400-167174400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:167172400-167180200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:167172400-167180200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:167172400-167180600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:167172800-167174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:167173000-167174600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr6:167173200-167174200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr6:167173200-167174200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:167173200-167174600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:167173400-167189000	Weak transcription	Brain Anterior Caudate	brain
24	chr6:167173600-167174200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:167173600-167174600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:167173800-167174200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr6:167173800-167174400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr6:167173800-167174400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:167173800-167174400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:167173800-167174400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:167174000-167174200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:167174000-167174200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr6:167174000-167174400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr6:167174000-167174400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:167174000-167179000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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