Variant report

Variant	rs73397100
Chromosome Location	chr6:31111125-31111126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31110842-31111491	K562	blood:	n/a	n/a
2	CTCF	chr6:31111020-31111170	AG04449	skin:	n/a	n/a
3	MAZ	chr6:31110842-31111575	IMR90	lung:	n/a	n/a
4	POLR2A	chr6:31110764-31111409	PFSK-1	brain:	n/a	n/a
5	RCOR1	chr6:31110438-31111544	IMR90	lung:	n/a	n/a
6	POLR2A	chr6:31110856-31111227	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:31110846-31111389	K562	blood:	n/a	n/a
8	CEBPB	chr6:31111022-31111339	IMR90	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31111076-31111126	HCPEpiC	choroid plexus:	n/a
2	chr6:31111076-31111126	ECC-1	luminal epithelium:	n/a
3	chr6:31111088-31111138	Jurkat	blood:	n/a
4	chr6:31111076-31111126	HIPEpiC	eye:	n/a
5	chr6:31111088-31111138	HMEC	breast:	n/a
6	chr6:31111076-31111126	NB4	blood:	n/a
7	chr6:31111076-31111126	HL-60	blood:	n/a
8	chr6:31111088-31111138	MCF10A-Er-Src	breast:	n/a
9	chr6:31111076-31111126	GM12878	blood:	n/a
10	chr6:31111088-31111138	SAEC	small airway:	n/a
11	chr6:31111088-31111138	SK-N-SH	brain:	n/a
12	chr6:31111076-31111126	SKMC	muscle:	n/a
13	chr6:31111088-31111138	K562	blood:	n/a
14	chr6:31111088-31111138	Hepatocyte	liver:	n/a
15	chr6:31111076-31111126	PFSK-1	brain:	n/a
16	chr6:31111076-31111126	HEK293	kidney:	embryo
17	chr6:31111076-31111126	NT2-D1	testis:	n/a
18	chr6:31111088-31111138	AG09309	skin:	n/a
19	chr6:31111088-31111138	AG04449	skin:	fetal
20	chr6:31111088-31111138	HAEpiC	amniotic membrane:	n/a
21	chr6:31111076-31111126	ProgFib	skin:	n/a
22	chr6:31111076-31111126	HepG2	liver:	n/a
23	chr6:31111076-31111126	HEEpiC	esophagus:	n/a
24	chr6:31111088-31111138	HRPEpiC	eye:	n/a
25	chr6:31111076-31111126	Jurkat	blood:	n/a
26	chr6:31111088-31111138	NT2-D1	testis:	n/a
27	chr6:31111076-31111126	NHDF-neo	bronchial:	n/a
28	chr6:31111088-31111138	HCM	heart:	n/a
29	chr6:31111076-31111126	HCF	heart:	n/a
30	chr6:31111088-31111138	AG04450	lung:	fetal
31	chr6:31111076-31111126	AG04449	skin:	fetal
32	chr6:31111088-31111138	Caco-2	colon:	n/a
33	chr6:31111088-31111138	AoSMC	blood vessel:	n/a
34	chr6:31111088-31111138	BE2_C	brain:	n/a
35	chr6:31111076-31111126	A549	lung:	n/a
36	chr6:31111076-31111126	GM12891	blood:	n/a
37	chr6:31111076-31111126	AG04450	lung:	fetal
38	chr6:31111076-31111126	HRCEpiC	kidney:	n/a
39	chr6:31111076-31111126	HRPEpiC	eye:	n/a
40	chr6:31111076-31111126	Hepatocyte	liver:	n/a
41	chr6:31111088-31111138	AG09319	gingival:	n/a
42	chr6:31111076-31111126	IMR90	lung:	fetal
43	chr6:31111088-31111138	HepG2	liver:	n/a
44	chr6:31111076-31111126	SK-N-MC	brain:	n/a
45	chr6:31111076-31111126	AG09319	gingival:	n/a
46	chr6:31111088-31111138	SK-N-MC	brain:	n/a
47	chr6:31111088-31111138	U87	brain:	n/a
48	chr6:31111076-31111126	H1-hESC	embryonic stem cell:	embryo
49	chr6:31111088-31111138	CMK	blood:	n/a
50	chr6:31111076-31111126	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31096272..31098669-chr6:31109725..31111701,2	MCF-7	breast:
2	chr6:30788219..30790360-chr6:31110500..31112207,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSORS1C2	TF binding region
PSORS1C2	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17197512	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17197533	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2233943	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28507710	0.82[ASN][1000 genomes]
rs3734861	1.00[AMR][1000 genomes]
rs3757349	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs386636	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4386815	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv525933	chr6:31081205-31142245	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	25 gene(s)	inside rSNPs	diseases
12	nsv884137	chr6:31082361-31129310	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
13	nsv1019637	chr6:31104401-31354706	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv1029569	chr6:31104401-31412740	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
15	nsv538174	chr6:31104401-31412740	Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
16	nsv524061	chr6:31107087-31133943	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31105600-31124400	Weak transcription	Fetal Kidney	kidney
2	chr6:31105600-31124800	Weak transcription	Small Intestine	intestine
3	chr6:31105800-31117000	Weak transcription	Brain Substantia Nigra	brain
4	chr6:31105800-31117200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:31105800-31117800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:31105800-31121800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:31105800-31122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:31105800-31124400	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:31105800-31124800	Weak transcription	Hela-S3	cervix
10	chr6:31105800-31125200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:31106000-31111800	Weak transcription	GM12878-XiMat	blood
12	chr6:31106000-31112800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:31106000-31125000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:31106000-31125000	Weak transcription	Fetal Brain Male	brain
15	chr6:31106000-31125200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:31107600-31112400	Weak transcription	Lung	lung
17	chr6:31107600-31112400	Weak transcription	Ovary	ovary
18	chr6:31107600-31125000	Weak transcription	NHDF-Ad	bronchial
19	chr6:31107800-31112600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:31107800-31117200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:31107800-31125000	Weak transcription	Fetal Heart	heart
22	chr6:31108000-31116200	Weak transcription	Esophagus	oesophagus
23	chr6:31109600-31111200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:31109600-31111400	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr6:31109600-31111400	Genic enhancers	Fetal Stomach	stomach
26	chr6:31109600-31111600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:31109600-31112200	Strong transcription	Fetal Intestine Small	intestine
28	chr6:31109600-31113800	Strong transcription	Thymus	Thymus
29	chr6:31109800-31111600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:31109800-31113800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:31109800-31113800	Strong transcription	Liver	Liver
32	chr6:31109800-31113800	Strong transcription	Dnd41	blood
33	chr6:31109800-31114400	Strong transcription	Brain Germinal Matrix	brain
34	chr6:31109800-31114800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:31110000-31111400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:31110000-31111600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:31110000-31111600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:31110000-31111600	Genic enhancers	Fetal Muscle Leg	muscle
39	chr6:31110000-31111800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:31110000-31124600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:31110200-31111200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr6:31110200-31111200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:31110200-31111200	Genic enhancers	Adipose Nuclei	Adipose
44	chr6:31110200-31111200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:31110200-31111200	Genic enhancers	Spleen	Spleen
46	chr6:31110200-31111400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr6:31110200-31111400	Strong transcription	Primary hematopoietic stem cells	blood
48	chr6:31110200-31111400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr6:31110200-31111400	Enhancers	Right Atrium	heart
50	chr6:31110200-31111600	Genic enhancers	H1 Cell Line	embryonic stem cell

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