Variant report

Variant	rs78775302
Chromosome Location	chr6:33587541-33587542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
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	STAT3	chr6:33587416-33587631	MCF10A-Er-Src	breast:	n/a	n/a
2	SMARCC1	chr6:33586961-33588673	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:33587236-33590289	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr6:33587120-33587595	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr6:33587500-33587650	HRE	kidney:	n/a	n/a
6	CTCF	chr6:33587460-33587610	GM12864	blood:	n/a	n/a
7	TBP	chr6:33587343-33588752	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr6:33587359-33587559	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33587496-33587546	HRPEpiC	eye:	n/a
2	chr6:33587496-33587546	HL-60	blood:	n/a
3	chr6:33587496-33587546	SKMC	muscle:	n/a
4	chr6:33587496-33587546	SK-N-SH	brain:	n/a
5	chr6:33587496-33587546	HRE	kidney:	n/a
6	chr6:33587496-33587546	BE2_C	brain:	n/a
7	chr6:33587496-33587546	AG04449	skin:	fetal
8	chr6:33587496-33587546	GM12892	blood:	n/a
9	chr6:33587496-33587546	HNPCEpiC	eye:	n/a
10	chr6:33587496-33587546	ECC-1	luminal epithelium:	n/a
11	chr6:33587496-33587546	GM12878	blood:	n/a
12	chr6:33587496-33587546	SK-N-SH_RA	brain:	n/a
13	chr6:33587496-33587546	H1-hESC	embryonic stem cell:	embryo
14	chr6:33587496-33587546	GM06990	blood:	n/a
15	chr6:33587496-33587546	HMEC	breast:	n/a
16	chr6:33587496-33587546	HIPEpiC	eye:	n/a
17	chr6:33587496-33587546	CMK	blood:	n/a
18	chr6:33587496-33587546	K562	blood:	n/a
19	chr6:33587496-33587546	NH-A	brain:	n/a
20	chr6:33587496-33587546	AoSMC	blood vessel:	n/a
21	chr6:33587496-33587546	HCF	heart:	n/a
22	chr6:33587496-33587546	HPAEpiC	pulmonary alveolar:	n/a
23	chr6:33587496-33587546	HCM	heart:	n/a
24	chr6:33587496-33587546	A549	lung:	n/a
25	chr6:33587496-33587546	NB4	blood:	n/a
26	chr6:33587496-33587546	SK-N-MC	brain:	n/a
27	chr6:33587496-33587546	ProgFib	skin:	n/a
28	chr6:33587496-33587546	GM12891	blood:	n/a
29	chr6:33587496-33587546	NT2-D1	testis:	n/a
30	chr6:33587496-33587546	AG04450	lung:	fetal
31	chr6:33587496-33587546	Caco-2	colon:	n/a
32	chr6:33587496-33587546	Hela-S3	cervix:	n/a
33	chr6:33587496-33587546	SAEC	small airway:	n/a
34	chr6:33587496-33587546	NHDF-neo	bronchial:	n/a
35	chr6:33587496-33587546	Hepatocyte	liver:	n/a
36	chr6:33587496-33587546	HEK293	kidney:	embryo
37	chr6:33587496-33587546	T-47D	breast:	n/a
38	chr6:33587496-33587546	HCPEpiC	choroid plexus:	n/a
39	chr6:33587496-33587546	PrEC	prostate:	n/a
40	chr6:33587496-33587546	ovcar-3	ovarian:	n/a
41	chr6:33587496-33587546	Jurkat	blood:	n/a
42	chr6:33587496-33587546	GM19239	blood:	n/a
43	chr6:33587496-33587546	HAEpiC	amniotic membrane:	n/a
44	chr6:33587496-33587546	U87	brain:	n/a
45	chr6:33587496-33587546	PANC-1	pancreas:	n/a
46	chr6:33587496-33587546	HepG2	liver:	n/a
47	chr6:33587496-33587546	PFSK-1	brain:	n/a
48	chr6:33587496-33587546	RPTEC	kidney:	n/a
49	chr6:33587496-33587546	AG09309	skin:	n/a
50	chr6:33587496-33587546	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
2	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
3	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:

No data

Variant related genes	Relation type
ITPR3	TF binding region
ITPR3	CpG island
ENSG00000204188	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000137309	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong 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	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
6	esv3471778	chr6:33581874-33587572	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33578800-33588000	Weak transcription	Gastric	stomach
2	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33580000-33587600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:33581600-33588000	Weak transcription	Brain Anterior Caudate	brain
5	chr6:33582200-33587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:33583800-33587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:33584000-33587800	Enhancers	Fetal Intestine Small	intestine
8	chr6:33585200-33587600	Weak transcription	Osteobl	bone
9	chr6:33586000-33587600	Enhancers	HSMM	muscle
10	chr6:33586000-33588000	Enhancers	Spleen	Spleen
11	chr6:33586400-33587800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:33586600-33587600	Enhancers	Fetal Lung	lung
13	chr6:33586600-33587600	Enhancers	HMEC	breast
14	chr6:33586600-33587800	Enhancers	Primary T cells from cord blood	blood
15	chr6:33586600-33587800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:33586600-33587800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr6:33586600-33587800	Enhancers	Fetal Intestine Large	intestine
18	chr6:33586600-33587800	Enhancers	Placenta	Placenta
19	chr6:33586600-33587800	Enhancers	Fetal Thymus	thymus
20	chr6:33586600-33587800	Enhancers	Right Ventricle	heart
21	chr6:33586600-33587800	Enhancers	NHEK	skin
22	chr6:33586600-33588200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:33586800-33587600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr6:33586800-33587600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr6:33586800-33587600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr6:33586800-33587600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:33586800-33587600	Enhancers	Duodenum Mucosa	Duodenum
28	chr6:33586800-33587800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:33586800-33587800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:33586800-33587800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:33586800-33587800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:33586800-33587800	Enhancers	Colonic Mucosa	Colon
33	chr6:33586800-33587800	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:33586800-33587800	Enhancers	Lung	lung
35	chr6:33586800-33587800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:33586800-33587800	Enhancers	Thymus	Thymus
37	chr6:33586800-33588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:33586800-33588000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:33586800-33588000	Enhancers	Stomach Mucosa	stomach
40	chr6:33586800-33588600	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr6:33587000-33587600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr6:33587000-33587600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr6:33587000-33587600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr6:33587000-33587600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:33587000-33587600	Enhancers	Adipose Nuclei	Adipose
46	chr6:33587000-33587800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr6:33587000-33587800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr6:33587000-33587800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:33587000-33587800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:33587000-33587800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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