Variant report

Variant	rs57237533
Chromosome Location	chr6:167364197-167364198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr6:167362999-167364205	MCF-7	breast:	n/a	n/a
2	POLR2A	chr6:167363349-167365201	GM12878	blood:	n/a	n/a
3	RELA	chr6:167363624-167364279	GM18951	blood:	n/a	n/a
4	RELA	chr6:167363686-167364277	GM19193	blood:	n/a	n/a
5	JUND	chr6:167364189-167365205	K562	blood:	n/a	n/a
6	POLR2A	chr6:167363141-167365064	GM19193	blood:	n/a	n/a
7	POLR2A	chr6:167363833-167364636	GM12892	blood:	n/a	n/a
8	JUN	chr6:167364049-167365140	K562	blood:	n/a	n/a
9	POLR2A	chr6:167364044-167364317	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:167363901-167365113	GM12891	blood:	n/a	n/a
11	FOXM1	chr6:167363550-167365213	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:167363085-167364460	HepG2	liver:	n/a	n/a
13	BCLAF1	chr6:167363682-167364306	GM12878	blood:	n/a	chr6:167363938-167363947
14	STAT1	chr6:167363843-167364209	GM12878	blood:	n/a	chr6:167363978-167363989
15	POLR2A	chr6:167363825-167364689	GM12878	blood:	n/a	n/a
16	FOXM1	chr6:167363688-167365268	GM12878	blood:	n/a	n/a
17	HEY1	chr6:167363848-167365006	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:167363625-167364471	K562	blood:	n/a	n/a
19	RUNX3	chr6:167363695-167365243	GM12878	blood:	n/a	n/a
20	BATF	chr6:167363731-167364205	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:167362977-167365124	GM12891	blood:	n/a	n/a
22	RUNX3	chr6:167363485-167364297	GM12878	blood:	n/a	n/a
23	NFYB	chr6:167364016-167364504	GM12878	blood:	n/a	n/a
24	IRF4	chr6:167363741-167365208	GM12878	blood:	n/a	n/a
25	MXI1	chr6:167363709-167365454	GM12878	blood:	n/a	n/a
26	SPI1	chr6:167363679-167364200	GM12891	blood:	n/a	n/a
27	POLR2A	chr6:167363089-167365108	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:167363767-167365160	GM12891	blood:	n/a	n/a
29	MTA3	chr6:167363331-167364435	GM12878	blood:	n/a	n/a
30	MTA3	chr6:167362913-167365179	GM12878	blood:	n/a	n/a
31	WRNIP1	chr6:167363587-167364246	GM12878	blood:	n/a	n/a
32	RELA	chr6:167363485-167364409	GM18505	blood:	n/a	n/a
33	NFIC	chr6:167363666-167364233	GM12878	blood:	n/a	n/a
34	GATA1	chr6:167364072-167365595	K562	blood:	n/a	n/a
35	POLR2A	chr6:167363114-167365106	GM18505	blood:	n/a	n/a
36	SPI1	chr6:167363509-167364295	GM12878	blood:	n/a	n/a
37	CTCF	chr6:167364100-167364250	HepG2	liver:	n/a	n/a
38	MAX	chr6:167363667-167365149	GM12878	blood:	n/a	n/a
39	ATF2	chr6:167363635-167364298	GM12878	blood:	n/a	n/a
40	BHLHE40	chr6:167363687-167365191	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:167363528-167365186	GM12892	blood:	n/a	n/a
42	NFATC1	chr6:167363636-167364365	GM12878	blood:	n/a	n/a
43	RELA	chr6:167363514-167364199	GM19099	blood:	n/a	n/a
44	STAT5A	chr6:167363616-167364319	GM12878	blood:	n/a	chr6:167363978-167363989
45	BHLHE40	chr6:167363679-167365192	K562	blood:	n/a	n/a
46	EBF1	chr6:167363651-167365181	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:167363536-167364720	GM12878	blood:	n/a	n/a
48	CHD1	chr6:167363684-167365050	GM12878	blood:	n/a	n/a
49	TBL1XR1	chr6:167363125-167365112	GM12878	blood:	n/a	n/a
50	BCL3	chr6:167363740-167364297	GM12878	blood:	n/a	chr6:167363938-167363947

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:167361983..167365004-chr6:167367480..167371949,7	MCF-7	breast:
2	chr6:167358096..167360750-chr6:167361902..167364646,4	K562	blood:
3	chr6:167362668..167365438-chr6:167411450..167414365,2	MCF-7	breast:
4	chr6:167353412..167356832-chr6:167362421..167365420,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197146	TF binding region
ENSG00000026297	Chromatin interaction
ENSG00000249141	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000197146	Chromatin interaction
ENSG00000272980	Chromatin interaction
ENSG00000227598	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13214856	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2093415	0.97[ASN][1000 genomes]
rs56213919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59853096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6928890	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7741704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers 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
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167341000-167368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:167341200-167368800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:167342400-167368600	Weak transcription	Fetal Heart	heart
4	chr6:167344200-167368600	Weak transcription	Right Atrium	heart
5	chr6:167348400-167364800	Weak transcription	Brain Substantia Nigra	brain
6	chr6:167350600-167366400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:167350600-167367600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:167352200-167368800	Weak transcription	Fetal Kidney	kidney
9	chr6:167352400-167364800	Weak transcription	Right Ventricle	heart
10	chr6:167353800-167366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:167354400-167364800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:167354600-167364800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:167354600-167368800	Weak transcription	HSMM	muscle
14	chr6:167354600-167369000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:167354600-167369000	Weak transcription	A549	lung
16	chr6:167356400-167366800	Strong transcription	Fetal Intestine Small	intestine
17	chr6:167359200-167365400	Strong transcription	Primary hematopoietic stem cells	blood
18	chr6:167360000-167368800	Weak transcription	Fetal Lung	lung
19	chr6:167360600-167368800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:167360600-167368800	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:167360600-167369000	Weak transcription	Osteobl	bone
22	chr6:167361200-167364800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:167361200-167366200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:167361200-167369000	Weak transcription	Ovary	ovary
25	chr6:167361200-167369200	Weak transcription	Aorta	Aorta
26	chr6:167361800-167368600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:167361800-167369000	Weak transcription	Psoas Muscle	Psoas
28	chr6:167362200-167365800	Genic enhancers	HepG2	liver
29	chr6:167362200-167368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:167362600-167365400	Enhancers	Placenta	Placenta
31	chr6:167363000-167364200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:167363000-167364400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
33	chr6:167363000-167364800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:167363000-167366000	Genic enhancers	Fetal Thymus	thymus
35	chr6:167363000-167368000	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:167363200-167364200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:167363200-167364200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:167363200-167364200	Flanking Active TSS	Stomach Mucosa	stomach
39	chr6:167363200-167364200	Strong transcription	Thymus	Thymus
40	chr6:167363200-167364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:167363200-167364400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr6:167363200-167364400	Enhancers	Esophagus	oesophagus
43	chr6:167363200-167364400	Enhancers	Lung	lung
44	chr6:167363200-167364400	Genic enhancers	Spleen	Spleen
45	chr6:167363200-167364400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
46	chr6:167363200-167364800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:167363200-167365000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:167363200-167365200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
49	chr6:167363200-167365200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr6:167363200-167365600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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