Variant report

Variant	rs571691419
Chromosome Location	chr6:29713436-29713437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29713436-29713486	BE2_C	brain:	n/a
2	chr6:29713436-29713486	HIPEpiC	eye:	n/a
3	chr6:29713436-29713486	H1-hESC	embryonic stem cell:	embryo
4	chr6:29713436-29713486	GM12891	blood:	n/a
5	chr6:29713436-29713486	ovcar-3	ovarian:	n/a
6	chr6:29713436-29713486	HEK293	kidney:	embryo
7	chr6:29713436-29713486	AoSMC	blood vessel:	n/a
8	chr6:29713436-29713486	PrEC	prostate:	n/a
9	chr6:29713436-29713486	Jurkat	blood:	n/a
10	chr6:29713436-29713486	NHDF-neo	bronchial:	n/a
11	chr6:29713436-29713486	HCT-116	colon:	n/a
12	chr6:29713436-29713486	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:29713436-29713486	U87	brain:	n/a
14	chr6:29713436-29713486	AG04449	skin:	fetal
15	chr6:29713436-29713486	HAEpiC	amniotic membrane:	n/a
16	chr6:29713436-29713486	BJ	skin:	n/a
17	chr6:29713436-29713486	NB4	blood:	n/a
18	chr6:29713436-29713486	GM12878	blood:	n/a
19	chr6:29713436-29713486	HepG2	liver:	n/a
20	chr6:29713436-29713486	AG10803	skin:	n/a
21	chr6:29713436-29713486	LNCaP	prostate:	n/a
22	chr6:29713436-29713486	SK-N-MC	brain:	n/a
23	chr6:29713436-29713486	IMR90	lung:	fetal
24	chr6:29713436-29713486	GM06990	blood:	n/a
25	chr6:29713436-29713486	K562	blood:	n/a
26	chr6:29713436-29713486	ECC-1	luminal epithelium:	n/a
27	chr6:29713436-29713486	HRPEpiC	eye:	n/a
28	chr6:29713436-29713486	MCF10A-Er-Src	breast:	n/a
29	chr6:29713436-29713486	CMK	blood:	n/a
30	chr6:29713436-29713486	Hepatocyte	liver:	n/a
31	chr6:29713436-29713486	SK-N-SH	brain:	n/a
32	chr6:29713436-29713486	HMEC	breast:	n/a
33	chr6:29713436-29713486	NT2-D1	testis:	n/a
34	chr6:29713436-29713486	SKMC	muscle:	n/a
35	chr6:29713436-29713486	A549	lung:	n/a
36	chr6:29713436-29713486	MCF-7	breast:	n/a
37	chr6:29713436-29713486	HCM	heart:	n/a
38	chr6:29713436-29713486	NH-A	brain:	n/a
39	chr6:29713436-29713486	Hela-S3	cervix:	n/a
40	chr6:29713436-29713486	GM19239	blood:	n/a
41	chr6:29713436-29713486	HCF	heart:	n/a
42	chr6:29713436-29713486	T-47D	breast:	n/a
43	chr6:29713436-29713486	HNPCEpiC	eye:	n/a
44	chr6:29713436-29713486	Caco-2	colon:	n/a
45	chr6:29713436-29713486	AG04450	lung:	fetal
46	chr6:29713436-29713486	HCPEpiC	choroid plexus:	n/a
47	chr6:29713436-29713486	GM12892	blood:	n/a
48	chr6:29713436-29713486	PFSK-1	brain:	n/a
49	chr6:29713436-29713486	AG09309	skin:	n/a
50	chr6:29713436-29713486	HL-60	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29713370..29715869-chr6:29729277..29731286,2	MCF-7	breast:
2	chr6:29712707..29714647-chr6:29717488..29720857,3	K562	blood:
3	chr6:29704423..29706634-chr6:29713030..29715317,2	K562	blood:
4	chr6:29707158..29708968-chr6:29712786..29714883,2	K562	blood:
5	chr6:29710008..29711886-chr6:29712365..29714063,2	K562	blood:
6	chr6:29712194..29714049-chr6:29781280..29783856,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP57-7	chr6:29713250-29713504	ENSG00000214922.3
2	lnc-ZFP57-7	chr6:29713250-29713504	NONHSAT108548

No data

Variant related genes	Relation type
ENSG00000199290	CpG island
HCG9P5	CpG island
ENSG00000214922	Chromatin interaction
ENSG00000199290	Chromatin interaction
ENSG00000235821	Chromatin interaction
ENSG00000270896	Chromatin interaction
ENSG00000272236	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1821077	chr6:29670915-29726207	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers 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	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883533	chr6:29704237-29715997	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv883534	chr6:29708222-29724310	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv970102	chr6:29712775-29713579	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29692200-29715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:29692400-29715800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:29693400-29715600	Weak transcription	Esophagus	oesophagus
4	chr6:29693600-29715600	Weak transcription	NHLF	lung
5	chr6:29693800-29715400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:29693800-29716000	Weak transcription	Small Intestine	intestine
7	chr6:29694000-29715600	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:29696000-29715600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:29696000-29715600	Weak transcription	Ovary	ovary
10	chr6:29696200-29715200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:29696200-29715600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:29696200-29715600	Weak transcription	Liver	Liver
13	chr6:29696400-29715400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:29696600-29715600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:29696800-29714600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:29696800-29715800	Weak transcription	Colonic Mucosa	Colon
17	chr6:29700000-29715200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:29702400-29715400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:29702600-29715400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:29702800-29713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:29702800-29715400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:29702800-29715600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr6:29706000-29715400	Weak transcription	Right Atrium	heart
24	chr6:29706000-29715800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:29706800-29715800	Weak transcription	NHDF-Ad	bronchial
26	chr6:29707600-29715400	Weak transcription	NHEK	skin
27	chr6:29709800-29714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:29709800-29715400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:29711200-29713600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr6:29711200-29715200	Weak transcription	HMEC	breast
31	chr6:29711400-29713600	Strong transcription	Spleen	Spleen
32	chr6:29711400-29713800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:29712000-29714000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:29712400-29713800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:29712400-29715400	Weak transcription	Left Ventricle	heart
36	chr6:29712400-29715600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:29712400-29715600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:29712600-29714400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:29712600-29715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:29712600-29715400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:29712600-29715400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:29712600-29715600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:29712600-29715600	Weak transcription	Adipose Nuclei	Adipose
44	chr6:29712800-29716000	Weak transcription	Aorta	Aorta
45	chr6:29713000-29713600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:29713000-29713600	Weak transcription	Right Ventricle	heart
47	chr6:29713000-29714000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:29713000-29715400	Weak transcription	Gastric	stomach
49	chr6:29713200-29714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:29713200-29715400	Weak transcription	Duodenum Mucosa	Duodenum

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