Variant report

Variant	rs111587953
Chromosome Location	chr6:13813836-13813837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr6:13813818-13814953	H1-hESC	embryonic stem cell:	n/a	chr6:13813983-13814001
2	POLR2A	chr6:13813812-13815677	K562	blood:	n/a	n/a
3	POLR2A	chr6:13813724-13815318	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr6:13813736-13815574	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:13813793-13815138	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr6:13813765-13815165	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr6:13813753-13814714	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr6:13813672-13815550	IMR90	lung:	n/a	n/a
9	SIN3AK20	chr6:13813682-13815419	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:13813829-13815322	MCF-7	breast:	n/a	n/a
11	BHLHE40	chr6:13813776-13815189	K562	blood:	n/a	n/a
12	MAX	chr6:13813703-13815311	HepG2	liver:	n/a	n/a
13	MAX	chr6:13813826-13815025	HepG2	liver:	n/a	n/a
14	USF1	chr6:13813810-13814996	HCT-116	colon:	n/a	chr6:13814463-13814474
15	MYC	chr6:13813810-13815370	NB4	blood:	n/a	n/a
16	MAZ	chr6:13813284-13815235	IMR90	lung:	n/a	n/a
17	GATA3	chr6:13813653-13813858	SH-SY5Y	brain:	n/a	n/a
18	POLR2A	chr6:13813781-13815098	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr6:13813756-13815240	Hela-S3	cervix:	n/a	n/a
20	TAF1	chr6:13813796-13814171	Hela-S3	cervix:	n/a	n/a
21	SIN3A	chr6:13813701-13815215	H1-hESC	embryonic stem cell:	n/a	n/a
22	HDAC2	chr6:13813776-13815035	HepG2	liver:	n/a	n/a
23	MAX	chr6:13813763-13815229	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr6:13813823-13814828	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:13813796-13815129	H1-hESC	embryonic stem cell:	n/a	n/a
26	TBP	chr6:13813791-13815309	K562	blood:	n/a	chr6:13815149-13815160
27	RUNX3	chr6:13813828-13814086	GM12878	blood:	n/a	n/a
28	RFX5	chr6:13813811-13815113	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr6:13813745-13815017	HUVEC	blood vessel:	n/a	n/a
30	REST	chr6:13813689-13815099	H1-neurons	neurons:	n/a	n/a
31	ZBTB7A	chr6:13813739-13814707	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr6:13813747-13814013	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr6:13813704-13815207	HCT-116	colon:	n/a	n/a
34	HEY1	chr6:13813777-13815292	HepG2	liver:	n/a	n/a
35	RELA	chr6:13813826-13815216	GM15510	blood:	n/a	n/a
36	MAX	chr6:13813830-13815169	ECC-1	luminal epithelium:	n/a	n/a
37	SP1	chr6:13813699-13814203	H1-hESC	embryonic stem cell:	n/a	chr6:13813984-13813995 chr6:13813985-13813994 chr6:13814185-13814194 chr6:13813985-13813994 chr6:13814185-13814194 chr6:13813986-13813995 chr6:13813968-13813979 chr6:13814186-13814195 chr6:13814184-13814196
38	EGR1	chr6:13813805-13814222	K562	blood:	n/a	chr6:13813964-13813977 chr6:13814077-13814087 chr6:13813965-13813976 chr6:13813963-13813978 chr6:13814058-13814068
39	MYC	chr6:13813787-13815338	K562	blood:	n/a	n/a
40	SIN3AK20	chr6:13813752-13815317	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr6:13813740-13815204	Hela-S3	cervix:	n/a	n/a
42	MAX	chr6:13813805-13815121	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZMIZ1	chr6:13813805-13815688	K562	blood:	n/a	n/a
44	EGR1	chr6:13813777-13814971	K562	blood:	n/a	chr6:13813964-13813977 chr6:13814077-13814087 chr6:13813965-13813976 chr6:13813963-13813978 chr6:13814886-13814899 chr6:13814058-13814068
45	TAF1	chr6:13813827-13815035	HepG2	liver:	n/a	n/a
46	UBTF	chr6:13813796-13815555	K562	blood:	n/a	n/a
47	TEAD4	chr6:13813813-13815792	K562	blood:	n/a	n/a
48	HDAC2	chr6:13813822-13814959	MCF-7	breast:	n/a	n/a
49	TAF1	chr6:13813832-13815022	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr6:13813789-13815171	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:13710342..13712818-chr6:13812780..13815719,5	MCF-7	breast:
2	chr6:13709898..13714007-chr6:13809605..13814723,8	K562	blood:
3	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
4	chr6:13613755..13617282-chr6:13813110..13815971,5	MCF-7	breast:
5	chr6:13811882..13817297-chr6:13824102..13828307,6	K562	blood:
6	chr6:13813751..13814556-chr6:14144563..14145068,2	K562	blood:
7	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:
8	chr6:13812222..13814493-chr6:13862660..13864603,2	MCF-7	breast:
9	chr6:13572890..13574981-chr6:13813241..13814788,2	K562	blood:
10	chr6:13572531..13574981-chr6:13813241..13815537,2	K562	blood:

Variant related genes	Relation type
ENSG00000233075	TF binding region
ENSG00000010017	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000272209	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3374707	chr6:13813498-13816346	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13811400-13815000	Active TSS	GM12878-XiMat	blood
2	chr6:13812000-13814000	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr6:13812200-13814000	Flanking Active TSS	Dnd41	blood
4	chr6:13812600-13814000	Active TSS	Fetal Brain Female	brain
5	chr6:13813200-13814000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:13813200-13814000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr6:13813200-13814000	Flanking Active TSS	HUVEC	blood vessel
8	chr6:13813200-13814200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:13813200-13814200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr6:13813200-13814200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr6:13813200-13815200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:13813200-13815400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:13813200-13815400	Active TSS	A549	lung
14	chr6:13813200-13815600	Active TSS	HSMMtube	muscle
15	chr6:13813400-13814000	Active TSS	Fetal Brain Male	brain
16	chr6:13813400-13814200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr6:13813400-13814200	Active TSS	Right Atrium	heart
18	chr6:13813400-13815000	Active TSS	Placenta	Placenta
19	chr6:13813400-13815000	Active TSS	Rectal Smooth Muscle	rectum
20	chr6:13813400-13815200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:13813400-13815200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:13813400-13815200	Active TSS	Muscle Satellite Cultured Cells	--
23	chr6:13813400-13815200	Active TSS	Fetal Kidney	kidney
24	chr6:13813400-13815200	Active TSS	Stomach Smooth Muscle	stomach
25	chr6:13813400-13815200	Active TSS	NHLF	lung
26	chr6:13813400-13815400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr6:13813400-13815400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:13813400-13815400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr6:13813400-13815400	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:13813400-13815400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:13813400-13815400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:13813400-13815400	Active TSS	Brain Cingulate Gyrus	brain
33	chr6:13813400-13815400	Active TSS	Brain Germinal Matrix	brain
34	chr6:13813400-13815400	Active TSS	Brain Substantia Nigra	brain
35	chr6:13813400-13815400	Active TSS	Colonic Mucosa	Colon
36	chr6:13813400-13815400	Active TSS	HSMM	muscle
37	chr6:13813400-13815400	Active TSS	NHDF-Ad	bronchial
38	chr6:13813400-13815600	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr6:13813400-13815600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr6:13813400-13815600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:13813400-13815600	Active TSS	Brain Angular Gyrus	brain
42	chr6:13813400-13815600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr6:13813400-13815600	Active TSS	Right Ventricle	heart
44	chr6:13813600-13814000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr6:13813600-13814000	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr6:13813600-13814000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr6:13813600-13814000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr6:13813600-13814000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr6:13813600-13814000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:13813600-13814000	Flanking Active TSS	Liver	Liver

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