Variant report

Variant	rs36222433
Chromosome Location	chr6:26364980-26364981
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	CREB1	chr6:26364935-26366049	K562	blood:	n/a	n/a
2	IRF1	chr6:26364651-26366119	K562	blood:	n/a	chr6:26365322-26365336 chr6:26365325-26365337 chr6:26365462-26365473 chr6:26365324-26365335 chr6:26365326-26365336 chr6:26365325-26365339 chr6:26365326-26365340 chr6:26365464-26365474 chr6:26365324-26365344 chr6:26365320-26365341 chr6:26365460-26365474 chr6:26365325-26365336 chr6:26365325-26365337 chr6:26365464-26365478
3	RFX5	chr6:26364506-26366305	K562	blood:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
4	MXI1	chr6:26364117-26367241	SK-N-SH	brain:	n/a	chr6:26365782-26365791
5	RFX5	chr6:26362983-26367827	IMR90	lung:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
6	CUX1	chr6:26364934-26365877	K562	blood:	n/a	n/a
7	MXI1	chr6:26364884-26365887	Hela-S3	cervix:	n/a	chr6:26365782-26365791
8	RFX5	chr6:26364327-26366044	H1-hESC	embryonic stem cell:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
9	MXI1	chr6:26364913-26366419	IMR90	lung:	n/a	chr6:26365782-26365791
10	NFIC	chr6:26364948-26366079	GM12878	blood:	n/a	n/a
11	RFX5	chr6:26362934-26367943	SK-N-SH	brain:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
12	CREB1	chr6:26364896-26365921	GM12878	blood:	n/a	n/a
13	PRDM1	chr6:26364910-26365921	Hela-S3	cervix:	n/a	chr6:26365461-26365475 chr6:26365323-26365337 chr6:26365460-26365475
14	MAX	chr6:26364956-26365977	NB4	blood:	n/a	chr6:26365784-26365791 chr6:26365753-26365763 chr6:26365782-26365793 chr6:26365781-26365791 chr6:26365783-26365792
15	IRF1	chr6:26364536-26366099	K562	blood:	n/a	chr6:26365322-26365336 chr6:26365325-26365337 chr6:26365462-26365473 chr6:26365324-26365335 chr6:26365326-26365336 chr6:26365325-26365339 chr6:26365326-26365340 chr6:26365464-26365474 chr6:26365324-26365344 chr6:26365320-26365341 chr6:26365460-26365474 chr6:26365325-26365336 chr6:26365325-26365337 chr6:26365464-26365478
16	RFX5	chr6:26364309-26366049	Hela-S3	cervix:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
17	PML	chr6:26364915-26366040	GM12878	blood:	n/a	chr6:26365463-26365471
18	STAT3	chr6:26364861-26365617	GM12878	blood:	n/a	chr6:26365325-26365336
19	RFX5	chr6:26364566-26365942	HepG2	liver:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375
20	IRF1	chr6:26364890-26365641	K562	blood:	n/a	chr6:26365322-26365336 chr6:26365325-26365337 chr6:26365462-26365473 chr6:26365324-26365335 chr6:26365326-26365336 chr6:26365325-26365339 chr6:26365326-26365340 chr6:26365464-26365474 chr6:26365324-26365344 chr6:26365320-26365341 chr6:26365460-26365474 chr6:26365325-26365336 chr6:26365325-26365337 chr6:26365464-26365478
21	POLR2A	chr6:26364942-26365861	PFSK-1	brain:	n/a	n/a
22	RFX5	chr6:26364915-26365934	GM12878	blood:	n/a	chr6:26365394-26365403 chr6:26365363-26365372 chr6:26365370-26365378 chr6:26365360-26365375

No.	Distal block	Cell Line	Cell type
1	chr6:26364672..26366648-chr6:26519902..26522691,2	K562	blood:
2	chr6:26361226..26362867-chr6:26363183..26365320,2	MCF-7	breast:
3	chr6:26363140..26366680-chr6:26382117..26385194,3	MCF-7	breast:
4	chr6:26360935..26366570-chr6:26520779..26523276,5	K562	blood:
5	chr6:26196455..26200961-chr6:26360873..26365378,4	K562	blood:
6	chr6:26341478..26343917-chr6:26362438..26365038,2	K562	blood:

Variant related genes	Relation type
BTN3A2	TF binding region
ENSG00000196866	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000124508	Chromatin interaction
ENSG00000197409	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11753257	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11759446	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11760103	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16891664	0.81[EUR][1000 genomes]
rs35932279	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36222771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3757143	0.84[EUR][1000 genomes]
rs58367598	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60049578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72836452	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72836462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72836464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72836472	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72836474	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72840197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72841507	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72841517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72841532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72841537	0.87[EUR][1000 genomes]
rs72842968	0.81[EUR][1000 genomes]
rs72842972	0.81[EUR][1000 genomes]
rs72842974	0.81[EUR][1000 genomes]
rs72842976	0.81[EUR][1000 genomes]
rs73736214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7765566	1.00[AMR][1000 genomes];0.97[EUR][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	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
4	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv482836	chr6:26352883-26520964	Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26356200-26365400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:26363400-26365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:26364200-26365000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr6:26364200-26365000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr6:26364200-26365000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr6:26364200-26365000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr6:26364200-26365000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr6:26364200-26365000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:26364200-26365000	Enhancers	Left Ventricle	heart
10	chr6:26364200-26365000	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr6:26364200-26365200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:26364200-26365200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr6:26364200-26365200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr6:26364200-26365200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:26364200-26365200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:26364200-26365200	Flanking Active TSS	Dnd41	blood
17	chr6:26364200-26366000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:26364400-26365000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:26364400-26365000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:26364400-26365000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr6:26364400-26365000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:26364400-26365000	Flanking Active TSS	Liver	Liver
23	chr6:26364400-26365000	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr6:26364400-26365000	Enhancers	Brain Germinal Matrix	brain
25	chr6:26364400-26365000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr6:26364400-26365000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:26364400-26365000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:26364400-26365000	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr6:26364400-26365000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr6:26364400-26365000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:26364400-26365000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr6:26364400-26365000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr6:26364400-26365000	Flanking Active TSS	Thymus	Thymus
34	chr6:26364400-26365000	Flanking Active TSS	Hela-S3	cervix
35	chr6:26364400-26365000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr6:26364400-26365000	Flanking Active TSS	NHEK	skin
37	chr6:26364400-26365200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:26364400-26365200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:26364400-26365200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr6:26364400-26365200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr6:26364400-26365200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr6:26364400-26365200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:26364400-26365200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr6:26364400-26365200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:26364400-26365200	Flanking Active TSS	GM12878-XiMat	blood
46	chr6:26364400-26365800	Active TSS	HSMM	muscle
47	chr6:26364400-26366000	Active TSS	Brain Anterior Caudate	brain
48	chr6:26364400-26366200	Active TSS	Stomach Smooth Muscle	stomach
49	chr6:26364600-26365000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:26364600-26365000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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