Variant report

Variant	rs192076458
Chromosome Location	chr6:36703161-36703162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:36703140-36703290	WERI-Rb-1	eye:	n/a	n/a
2	POLR2A	chr6:36701895-36703832	HL-60	blood:	n/a	n/a
3	CEBPB	chr6:36702907-36703264	IMR90	lung:	n/a	n/a
4	CTCF	chr6:36702900-36703190	NHDF-neo	bronchial:	n/a	n/a
5	MAZ	chr6:36702661-36703935	IMR90	lung:	n/a	n/a
6	FOXP2	chr6:36702932-36703317	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr6:36702134-36704101	NB4	blood:	n/a	n/a
8	CTCF	chr6:36703080-36703230	GM12867	blood:	n/a	n/a
9	POLR2A	chr6:36701915-36703986	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:36703127-36703177	MCF10A-Er-Src	breast:	n/a
2	chr6:36703127-36703177	PrEC	prostate:	n/a
3	chr6:36703127-36703177	HRCEpiC	kidney:	n/a
4	chr6:36703127-36703177	BE2_C	brain:	n/a
5	chr6:36703127-36703177	AG09319	gingival:	n/a
6	chr6:36703127-36703177	SK-N-MC	brain:	n/a
7	chr6:36703127-36703177	HL-60	blood:	n/a
8	chr6:36703127-36703177	HNPCEpiC	eye:	n/a
9	chr6:36703127-36703177	HEK293	kidney:	embryo
10	chr6:36703127-36703177	SK-N-SH_RA	brain:	n/a
11	chr6:36703127-36703177	ovcar-3	ovarian:	n/a
12	chr6:36703127-36703177	HMEC	breast:	n/a
13	chr6:36703127-36703177	SKMC	muscle:	n/a
14	chr6:36703127-36703177	NT2-D1	testis:	n/a
15	chr6:36703127-36703177	HCM	heart:	n/a
16	chr6:36703127-36703177	A549	lung:	n/a
17	chr6:36703127-36703177	HRPEpiC	eye:	n/a
18	chr6:36703127-36703177	AoSMC	blood vessel:	n/a
19	chr6:36703127-36703177	Caco-2	colon:	n/a
20	chr6:36703127-36703177	ECC-1	luminal epithelium:	n/a
21	chr6:36703127-36703177	NH-A	brain:	n/a
22	chr6:36703127-36703177	RPTEC	kidney:	n/a
23	chr6:36703127-36703177	HepG2	liver:	n/a
24	chr6:36703127-36703177	HEEpiC	esophagus:	n/a
25	chr6:36703127-36703177	CMK	blood:	n/a
26	chr6:36703127-36703177	GM12878	blood:	n/a
27	chr6:36703127-36703177	HUVEC	blood vessel:	n/a
28	chr6:36703127-36703177	PANC-1	pancreas:	n/a
29	chr6:36703127-36703177	Jurkat	blood:	n/a
30	chr6:36703127-36703177	NB4	blood:	n/a
31	chr6:36703127-36703177	GM19239	blood:	n/a
32	chr6:36703127-36703177	GM12891	blood:	n/a
33	chr6:36703127-36703177	U87	brain:	n/a
34	chr6:36703127-36703177	ProgFib	skin:	n/a
35	chr6:36703127-36703177	HCT-116	colon:	n/a
36	chr6:36703127-36703177	GM06990	blood:	n/a
37	chr6:36703127-36703177	HIPEpiC	eye:	n/a
38	chr6:36703127-36703177	HAEpiC	amniotic membrane:	n/a
39	chr6:36703127-36703177	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:36703127-36703177	NHBE	bronchial:	n/a
41	chr6:36703127-36703177	PFSK-1	brain:	n/a
42	chr6:36703127-36703177	NHDF-neo	bronchial:	n/a
43	chr6:36703127-36703177	HCPEpiC	choroid plexus:	n/a
44	chr6:36703127-36703177	K562	blood:	n/a
45	chr6:36703127-36703177	AG10803	skin:	n/a
46	chr6:36703127-36703177	SK-N-SH	brain:	n/a
47	chr6:36703127-36703177	HCF	heart:	n/a
48	chr6:36703127-36703177	LNCaP	prostate:	n/a
49	chr6:36703127-36703177	AG04449	skin:	fetal
50	chr6:36703127-36703177	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36583432..36585248-chr6:36700120..36704013,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000220349	TF binding region
ENSG00000220349	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv885809	chr6:36687518-36719079	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv885810	chr6:36695223-36714491	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv885811	chr6:36695223-36719079	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv524053	chr6:36695223-36747406	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv885812	chr6:36696904-36705684	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv819609	chr6:36700559-36708943	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv520755	chr6:36702284-36713720	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv885813	chr6:36702843-36713720	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36699200-36703200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:36699200-36703400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:36702000-36704000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:36702200-36703800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:36702200-36703800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:36702200-36703800	Enhancers	Spleen	Spleen
7	chr6:36702200-36704000	Enhancers	Esophagus	oesophagus
8	chr6:36702200-36704000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr6:36702200-36704200	Enhancers	Stomach Mucosa	stomach
10	chr6:36702200-36704800	Enhancers	Lung	lung
11	chr6:36702400-36703400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr6:36702400-36703400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr6:36702400-36703400	Bivalent Enhancer	Placenta	Placenta
14	chr6:36702400-36703400	Enhancers	Fetal Thymus	thymus
15	chr6:36702400-36703400	Enhancers	GM12878-XiMat	blood
16	chr6:36702400-36703600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:36702400-36703600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:36702400-36703600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:36702400-36703600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr6:36702400-36703600	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr6:36702400-36703600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr6:36702400-36703800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:36702400-36704000	Enhancers	Psoas Muscle	Psoas
24	chr6:36702400-36704000	Enhancers	Right Atrium	heart
25	chr6:36702400-36704000	Enhancers	Right Ventricle	heart
26	chr6:36702400-36704200	Enhancers	Small Intestine	intestine
27	chr6:36702600-36703200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr6:36702600-36703200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr6:36702600-36703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:36702600-36703200	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr6:36702600-36703400	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:36702600-36703400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:36702600-36703400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:36702600-36703400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:36702600-36703400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:36702600-36703400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:36702600-36703400	Flanking Active TSS	Colonic Mucosa	Colon
38	chr6:36702600-36703400	Enhancers	HMEC	breast
39	chr6:36702600-36703400	Flanking Active TSS	NHEK	skin
40	chr6:36702600-36703400	Flanking Active TSS	NHLF	lung
41	chr6:36702600-36703600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:36702600-36703600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:36702600-36703600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:36702600-36703600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr6:36702600-36703800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:36702600-36703800	Flanking Active TSS	Osteobl	bone
47	chr6:36702600-36704000	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:36702600-36704000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr6:36702800-36703200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr6:36702800-36703200	Flanking Active TSS	Fetal Kidney	kidney

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