Variant report

Variant	rs142756236
Chromosome Location	chr6:109761353-109761354
allele	-/GT
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	SETDB1	chr6:109761307-109762511	K562	blood:	n/a	n/a
2	NR2F2	chr6:109760986-109762085	K562	blood:	n/a	n/a
3	NR2F2	chr6:109761276-109762393	MCF-7	breast:	n/a	n/a
4	E2F6	chr6:109761329-109761874	A549	lung:	n/a	chr6:109761583-109761593 chr6:109761855-109761864 chr6:109761453-109761462 chr6:109761577-109761586 chr6:109761563-109761572
5	ZBTB7A	chr6:109761340-109761887	ECC-1	luminal epithelium:	n/a	chr6:109761473-109761487
6	E2F6	chr6:109761274-109762704	K562	blood:	n/a	chr6:109761583-109761593 chr6:109761855-109761864 chr6:109761875-109761884 chr6:109761453-109761462 chr6:109761577-109761586 chr6:109761563-109761572 chr6:109762207-109762216 chr6:109762209-109762219
7	E2F6	chr6:109761330-109762952	H1-hESC	embryonic stem cell:	n/a	chr6:109761583-109761593 chr6:109761855-109761864 chr6:109761875-109761884 chr6:109761453-109761462 chr6:109761577-109761586 chr6:109761563-109761572 chr6:109762207-109762216 chr6:109762209-109762219
8	MXI1	chr6:109760621-109763112	SK-N-SH	brain:	n/a	chr6:109762145-109762160 chr6:109761832-109761847
9	ZBTB7A	chr6:109761331-109762684	K562	blood:	n/a	chr6:109761473-109761487
10	RCOR1	chr6:109761048-109762700	GM12878	blood:	n/a	n/a
11	MYC	chr6:109761346-109762787	K562	blood:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
12	TBP	chr6:109760869-109762954	K562	blood:	n/a	n/a
13	ZBTB7A	chr6:109761312-109762124	K562	blood:	n/a	chr6:109761473-109761487
14	TCF12	chr6:109761274-109762326	A549	lung:	n/a	n/a
15	HCFC1	chr6:109761064-109762978	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr6:109760770-109762521	Hela-S3	cervix:	n/a	chr6:109762145-109762160 chr6:109761832-109761847
17	MAX	chr6:109761323-109762879	H1-hESC	embryonic stem cell:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
18	MYC	chr6:109761346-109762872	K562	blood:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
19	E2F6	chr6:109761218-109762764	A549	lung:	n/a	chr6:109761583-109761593 chr6:109761855-109761864 chr6:109761875-109761884 chr6:109761453-109761462 chr6:109761577-109761586 chr6:109761563-109761572 chr6:109762207-109762216 chr6:109762209-109762219
20	UBTF	chr6:109760909-109762895	K562	blood:	n/a	n/a
21	MAX	chr6:109761267-109763135	HCT-116	colon:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
22	EGR1	chr6:109761333-109762895	HCT-116	colon:	n/a	chr6:109761875-109761885 chr6:109761894-109761907 chr6:109761454-109761467 chr6:109761562-109761572 chr6:109761854-109761864 chr6:109761454-109761467 chr6:109761856-109761869
23	REST	chr6:109761176-109762431	H1-neurons	neurons:	n/a	n/a
24	MAZ	chr6:109761351-109762706	K562	blood:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
25	POLR2A	chr6:109760888-109762727	IMR90	lung:	n/a	n/a
26	E2F6	chr6:109761340-109762120	K562	blood:	n/a	chr6:109761583-109761593 chr6:109761855-109761864 chr6:109761875-109761884 chr6:109761453-109761462 chr6:109761577-109761586 chr6:109761563-109761572
27	PAX5	chr6:109761308-109761559	GM12878	blood:	n/a	n/a
28	MAX	chr6:109761296-109762906	K562	blood:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
29	MAX	chr6:109761311-109762944	MCF-7	breast:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
30	E2F6	chr6:109761252-109762891	K562	blood:	n/a	chr6:109761583-109761593 chr6:109761855-109761864 chr6:109761875-109761884 chr6:109761453-109761462 chr6:109761577-109761586 chr6:109761563-109761572 chr6:109762207-109762216 chr6:109762209-109762219
31	STAT3	chr6:109761187-109761391	MCF10A-Er-Src	breast:	n/a	n/a
32	MAX	chr6:109761195-109762675	A549	lung:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
33	HDAC2	chr6:109761328-109762829	MCF-7	breast:	n/a	n/a
34	MAZ	chr6:109761290-109763147	IMR90	lung:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
35	EP300	chr6:109761300-109762141	K562	blood:	n/a	chr6:109761903-109761919 chr6:109761880-109761896 chr6:109761866-109761882
36	POLR2A	chr6:109761308-109761476	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr6:109761298-109765076	H1-hESC	embryonic stem cell:	n/a	n/a
38	TBL1XR1	chr6:109761249-109762919	GM12878	blood:	n/a	n/a
39	NR2F2	chr6:109761293-109761926	K562	blood:	n/a	n/a
40	POLR2A	chr6:109759972-109762988	MCF10A-Er-Src	breast:	n/a	n/a
41	ZBTB7A	chr6:109761192-109762496	ECC-1	luminal epithelium:	n/a	chr6:109761473-109761487
42	POLR2A	chr6:109761161-109761438	Hela-S3	cervix:	n/a	n/a
43	SIN3AK20	chr6:109761320-109762983	PANC-1	pancreas:	n/a	n/a
44	MAX	chr6:109761308-109762884	ECC-1	luminal epithelium:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
45	MYC	chr6:109760685-109762935	A549	lung:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
46	MAX	chr6:109760974-109762799	K562	blood:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
47	MAX	chr6:109760825-109762882	Hela-S3	cervix:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
48	MAX	chr6:109761215-109762753	A549	lung:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
49	POLR2A	chr6:109760717-109762995	K562	blood:	n/a	n/a
50	MAX	chr6:109761285-109762982	HCT-116	colon:	n/a	chr6:109761564-109761574 chr6:109762181-109762190

No.	Distal block	Cell Line	Cell type
1	chr6:109747606..109757389-chr6:109757828..109761794,11	K562	blood:
2	chr6:109415348..109417479-chr6:109760287..109762549,2	K562	blood:
3	chr6:109702383..109706611-chr6:109760202..109762116,4	K562	blood:
4	chr6:109759652..109764361-chr6:109800705..109806354,8	K562	blood:
5	chr6:109414651..109418067-chr6:109760738..109763991,4	MCF-7	breast:
6	chr6:109702022..109707287-chr6:109760251..109763953,8	MCF-7	breast:
7	chr6:109760182..109762059-chr6:109802883..109805670,2	MCF-7	breast:
8	chr6:109759628..109764398-chr6:109803414..109806709,4	K562	blood:
9	chr6:108880181..108882285-chr6:109761167..109763162,2	MCF-7	breast:
10	chr6:109702065..109705528-chr6:109760483..109765471,8	MCF-7	breast:
11	chr6:109760146..109763576-chr6:109804047..109805770,3	MCF-7	breast:
12	chr6:109752212..109757242-chr6:109759553..109764133,7	MCF-7	breast:

Variant related genes	Relation type
SMPD2	TF binding region
ENSG00000118689	Chromatin interaction
ENSG00000185250	Chromatin interaction
ENSG00000112365	Chromatin interaction
ENSG00000080546	Chromatin interaction
ENSG00000239160	Chromatin interaction
ENSG00000183137	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000135535	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	esv3344959	chr6:109760484-109763032	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109751200-109761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:109756800-109761400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:109760200-109761600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr6:109760200-109763200	Active TSS	A549	lung
5	chr6:109760400-109761600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:109760400-109762400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:109760400-109762400	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:109760400-109762600	Active TSS	Ovary	ovary
9	chr6:109760400-109762600	Active TSS	Rectal Smooth Muscle	rectum
10	chr6:109760400-109762800	Active TSS	Fetal Intestine Small	intestine
11	chr6:109760400-109763400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:109760600-109761400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:109760600-109761400	Flanking Active TSS	Placenta	Placenta
14	chr6:109760600-109761400	Flanking Active TSS	HSMM	muscle
15	chr6:109760600-109761400	Flanking Active TSS	NHEK	skin
16	chr6:109760600-109761600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr6:109760600-109762400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:109760600-109762400	Active TSS	Colonic Mucosa	Colon
19	chr6:109760600-109762600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:109760600-109762600	Active TSS	Aorta	Aorta
21	chr6:109760600-109762600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr6:109760600-109762600	Active TSS	Fetal Intestine Large	intestine
23	chr6:109760600-109762800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr6:109760800-109761400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:109760800-109761400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:109760800-109761400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:109760800-109761400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:109760800-109761400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:109760800-109761400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:109760800-109761400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr6:109760800-109761400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:109760800-109761400	Flanking Active TSS	Fetal Lung	lung
33	chr6:109760800-109761400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr6:109760800-109761400	Enhancers	Spleen	Spleen
35	chr6:109760800-109761400	Flanking Active TSS	K562	blood
36	chr6:109760800-109761600	Flanking Active TSS	HUVEC	blood vessel
37	chr6:109760800-109761800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:109760800-109762400	Active TSS	Brain Germinal Matrix	brain
39	chr6:109760800-109762600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:109760800-109762600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr6:109760800-109762600	Active TSS	Brain Angular Gyrus	brain
42	chr6:109760800-109762600	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:109760800-109762600	Active TSS	Brain Hippocampus Middle	brain
44	chr6:109760800-109762600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:109760800-109762600	Active TSS	Esophagus	oesophagus
46	chr6:109760800-109762600	Active TSS	Pancreas	Pancrea
47	chr6:109760800-109762600	Active TSS	Right Atrium	heart
48	chr6:109760800-109762600	Active TSS	Stomach Mucosa	stomach
49	chr6:109760800-109762600	Active TSS	NHLF	lung
50	chr6:109760800-109762800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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