Variant report

Variant	rs35193701
Chromosome Location	chr6:27218467-27218468
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:27218428-27220231	K562	blood:	n/a	n/a
2	ZBTB7A	chr6:27218403-27219867	K562	blood:	n/a	n/a
3	E2F6	chr6:27218399-27218612	K562	blood:	n/a	n/a
4	E2F6	chr6:27218276-27219991	K562	blood:	n/a	chr6:27218683-27218695
5	E2F6	chr6:27218167-27219373	H1-hESC	embryonic stem cell:	n/a	chr6:27218683-27218695
6	POLR2A	chr6:27216644-27224576	K562	blood:	n/a	n/a
7	RUNX3	chr6:27218143-27218530	GM12878	blood:	n/a	n/a
8	E2F6	chr6:27218278-27219363	H1-hESC	embryonic stem cell:	n/a	chr6:27218683-27218695
9	POLR2A	chr6:27218288-27218522	K562	blood:	n/a	n/a
10	SIN3AK20	chr6:27218459-27219237	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZBTB7A	chr6:27218357-27219821	K562	blood:	n/a	n/a
12	NR2F2	chr6:27218216-27219252	K562	blood:	n/a	n/a
13	POLR2A	chr6:27218367-27220130	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr6:27218338-27219273	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr6:27217747-27220268	H1-hESC	embryonic stem cell:	n/a	n/a
16	HMGN3	chr6:27218424-27219937	K562	blood:	n/a	n/a
17	CCNT2	chr6:27218242-27218582	K562	blood:	n/a	n/a
18	POLR2A	chr6:27218053-27220057	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27110323..27115581-chr6:27216717..27220429,5	K562	blood:
2	chr6:27217724..27219322-chr6:27799079..27801494,2	MCF-7	breast:
3	chr6:27099473..27102319-chr6:27217669..27219889,2	K562	blood:
4	chr6:27111807..27118148-chr6:27215986..27222524,9	K562	blood:
5	chr6:27217680..27220381-chr6:27773874..27775997,2	K562	blood:
6	chr6:27217585..27220597-chr6:27438809..27440860,3	K562	blood:
7	chr6:27218208..27219861-chr6:27859108..27862899,3	K562	blood:

No data

Variant related genes	Relation type
PRSS16	TF binding region
ENSG00000196787	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000197914	Chromatin interaction
ENSG00000233224	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3366700	chr6:27218098-27220596	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27215600-27218800	Bivalent/Poised TSS	Fetal Thymus	thymus
2	chr6:27217800-27218600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:27217800-27220200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:27218000-27218600	Flanking Active TSS	GM12878-XiMat	blood
5	chr6:27218000-27218800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:27218000-27220000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr6:27218000-27220200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:27218000-27220200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
9	chr6:27218200-27218600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr6:27218200-27218600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr6:27218200-27218600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:27218200-27218600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr6:27218200-27218600	Flanking Active TSS	K562	blood
14	chr6:27218200-27218800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr6:27218200-27219800	Bivalent/Poised TSS	Aorta	Aorta
16	chr6:27218200-27220000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:27218200-27220000	Active TSS	A549	lung
18	chr6:27218200-27220200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:27218200-27220200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:27218200-27220200	Active TSS	Duodenum Mucosa	Duodenum
21	chr6:27218200-27220400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr6:27218400-27218600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:27218400-27218600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:27218400-27218600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr6:27218400-27218600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:27218400-27218600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:27218400-27218600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:27218400-27218600	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr6:27218400-27218600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr6:27218400-27218600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:27218400-27218600	Flanking Active TSS	Colonic Mucosa	Colon
32	chr6:27218400-27218600	Bivalent/Poised TSS	Esophagus	oesophagus
33	chr6:27218400-27218600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr6:27218400-27218600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:27218400-27218600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr6:27218400-27218600	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr6:27218400-27218600	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr6:27218400-27218600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr6:27218400-27218600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr6:27218400-27218600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
41	chr6:27218400-27218600	Flanking Active TSS	NHEK	skin
42	chr6:27218400-27218800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:27218400-27218800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr6:27218400-27218800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr6:27218400-27218800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:27218400-27218800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:27218400-27218800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:27218400-27218800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr6:27218400-27218800	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr6:27218400-27218800	Active TSS	Lung	lung

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