Variant report

Variant	rs9347128
Chromosome Location	chr6:166874300-166874301
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:166873360-166875244	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:166874130-166875129	PFSK-1	brain:	n/a	n/a
3	TCF12	chr6:166874225-166874893	SK-N-SH	brain:	n/a	n/a
4	CEBPB	chr6:166874189-166874844	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166867400..166870305-chr6:166873619..166875332,2	K562	blood:
2	chr6:166873172..166875809-chr6:166876336..166878720,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRP44L-1	chr6:166874151-166874326	ENSG00000232082.1

No data

Variant related genes	Relation type
RPS6KA2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2235294	0.84[AFR][1000 genomes]
rs28737237	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34657605	0.88[AFR][1000 genomes]
rs9348137	0.88[ASN][1000 genomes]
rs9355582	0.88[ASN][1000 genomes]
rs9355583	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv886937	chr6:166830696-166922813	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886938	chr6:166859725-166904398	Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886939	chr6:166859725-166922813	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:166825200-166875800	Weak transcription	Colonic Mucosa	Colon
4	chr6:166833200-166879000	Weak transcription	NH-A	brain
5	chr6:166833400-166879000	Weak transcription	HSMM	muscle
6	chr6:166834200-166879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:166846000-166881000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:166862400-166900600	Weak transcription	Primary T cells from cord blood	blood
9	chr6:166862400-166920600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:166862600-166878800	Weak transcription	Brain Substantia Nigra	brain
11	chr6:166862600-166879400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:166862600-166883000	Weak transcription	Aorta	Aorta
13	chr6:166862600-166883000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:166862800-166878000	Weak transcription	HSMMtube	muscle
15	chr6:166863400-166876600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:166863600-166900200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:166863600-166902000	Weak transcription	Small Intestine	intestine
18	chr6:166864600-166883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:166864800-166875600	Weak transcription	Gastric	stomach
20	chr6:166864800-166877400	Weak transcription	Brain Angular Gyrus	brain
21	chr6:166864800-166899800	Weak transcription	Esophagus	oesophagus
22	chr6:166865000-166875800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:166867400-166874400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:166867400-166879200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:166867400-166892800	Weak transcription	Fetal Brain Male	brain
26	chr6:166867600-166900000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:166868600-166875800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:166870400-166876000	Strong transcription	Lung	lung
29	chr6:166870400-166898400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:166870600-166874800	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr6:166870600-166881000	Weak transcription	Fetal Kidney	kidney
32	chr6:166871000-166901400	Weak transcription	Stomach Mucosa	stomach
33	chr6:166871200-166874400	Weak transcription	HUVEC	blood vessel
34	chr6:166871200-166874600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:166871200-166876000	Weak transcription	Right Ventricle	heart
36	chr6:166871200-166879000	Weak transcription	Right Atrium	heart
37	chr6:166871800-166875400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:166871800-166879400	Weak transcription	Fetal Lung	lung
39	chr6:166872000-166900400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:166872200-166876200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:166872200-166877200	Weak transcription	Liver	Liver
42	chr6:166872200-166900400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:166872400-166874400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:166872400-166874800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:166872400-166877600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:166872400-166878000	Weak transcription	Fetal Intestine Small	intestine
47	chr6:166872800-166876000	Weak transcription	Brain Anterior Caudate	brain
48	chr6:166872800-166879000	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:166872800-166879000	Weak transcription	NHDF-Ad	bronchial
50	chr6:166873000-166875800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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