Variant report

Variant	rs6921738
Chromosome Location	chr6:4036783-4036784
allele	C/G
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	chr6:4036378-4037193	K562	blood:	n/a	n/a
2	ZNF263	chr6:4036535-4037013	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr6:4036456-4037000	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:4036528-4036806	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:4036218-4038224	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:4035713-4038240	K562	blood:	n/a	n/a
7	POLR2A	chr6:4036777-4037199	GM12892	blood:	n/a	n/a
8	POLR2A	chr6:4036569-4036899	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:4036285-4036994	K562	blood:	n/a	n/a
10	POLR2A	chr6:4036566-4036926	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:4036491-4037231	K562	blood:	n/a	n/a
12	POLR2A	chr6:4036556-4037142	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4034929..4037283-chr6:4138355..4141166,2	K562	blood:

Variant related genes	Relation type
PRPF4B	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12174184	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1408457	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543355	0.80[EUR][1000 genomes]
rs2181894	0.88[ASN][1000 genomes]
rs3747761	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3747762	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3747763	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3761787	0.91[ASN][1000 genomes]
rs4466281	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4959916	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4959918	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4959919	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6900476	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6906467	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6910519	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6914180	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6916982	0.88[ASN][1000 genomes]
rs6930892	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6933593	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6941706	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs697745	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707980	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707981	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707982	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707983	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707984	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707985	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs707987	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs707988	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7744603	0.93[ASN][1000 genomes]
rs7763233	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs853396	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs853397	0.86[ASN][1000 genomes]
rs853398	0.87[ASN][1000 genomes]
rs853399	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs853400	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs853402	0.84[ASN][1000 genomes]
rs853403	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853404	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853405	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853406	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853407	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853408	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853411	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs860477	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs860478	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9328215	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9328216	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9405694	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs941443	0.88[ASN][1000 genomes]
rs942474	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9503893	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1034223	chr6:4030708-4060347	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4022400-4043400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4022600-4049400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:4023000-4038600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:4023000-4063600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:4023200-4043400	Weak transcription	Aorta	Aorta
6	chr6:4023200-4064000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:4023400-4038800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:4023400-4040600	Weak transcription	Fetal Brain Male	brain
9	chr6:4023400-4071600	Weak transcription	Stomach Mucosa	stomach
10	chr6:4023800-4037400	Weak transcription	Fetal Brain Female	brain
11	chr6:4023800-4037600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:4023800-4067000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:4024000-4037600	Weak transcription	HSMMtube	muscle
14	chr6:4024200-4037000	Weak transcription	Right Atrium	heart
15	chr6:4024200-4040200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:4024600-4040200	Weak transcription	Esophagus	oesophagus
17	chr6:4024600-4059200	Strong transcription	Fetal Thymus	thymus
18	chr6:4025200-4039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:4025400-4037600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:4027200-4038200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:4027200-4058200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:4027400-4037600	Weak transcription	Left Ventricle	heart
23	chr6:4027400-4039600	Weak transcription	Fetal Heart	heart
24	chr6:4027400-4039600	Weak transcription	Gastric	stomach
25	chr6:4027800-4040800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:4027800-4041600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:4028200-4038800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:4028600-4039000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:4028800-4037000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:4028800-4038600	Weak transcription	Ovary	ovary
31	chr6:4028800-4038600	Weak transcription	Psoas Muscle	Psoas
32	chr6:4028800-4038800	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:4028800-4039600	Weak transcription	Brain Angular Gyrus	brain
34	chr6:4028800-4042000	Weak transcription	Right Ventricle	heart
35	chr6:4029000-4039200	Weak transcription	Brain Substantia Nigra	brain
36	chr6:4029200-4040200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:4030000-4040600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:4030600-4039600	Weak transcription	Pancreas	Pancrea
39	chr6:4030600-4065800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:4030800-4059000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:4030800-4066600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:4031000-4059200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:4031000-4066400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:4031200-4066600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:4031400-4040000	Weak transcription	Small Intestine	intestine
46	chr6:4032600-4037600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:4032800-4037600	Weak transcription	A549	lung
48	chr6:4033000-4037400	Weak transcription	NH-A	brain
49	chr6:4033000-4037600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:4033000-4038400	Weak transcription	Colonic Mucosa	Colon

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