Variant report

Variant	rs370996850
Chromosome Location	chr6:109761629-109761630
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	PAX5	chr6:109761366-109762468	GM12892	blood:	n/a	n/a
2	ELF1	chr6:109761520-109762968	GM12878	blood:	n/a	chr6:109761858-109761867 chr6:109761854-109761866 chr6:109761795-109761807 chr6:109762102-109762113
3	MYC	chr6:109761450-109761948	MCF-7	breast:	n/a	chr6:109761564-109761574
4	SETDB1	chr6:109761307-109762511	K562	blood:	n/a	n/a
5	NR2F2	chr6:109760986-109762085	K562	blood:	n/a	n/a
6	NR2F2	chr6:109761276-109762393	MCF-7	breast:	n/a	n/a
7	E2F6	chr6:109761329-109761874	A549	lung:	n/a	chr6:109761583-109761593 chr6:109761855-109761864 chr6:109761453-109761462 chr6:109761577-109761586 chr6:109761563-109761572
8	POLR2A	chr6:109761401-109763076	H1-neurons	neurons:	n/a	n/a
9	ZBTB7A	chr6:109761340-109761887	ECC-1	luminal epithelium:	n/a	chr6:109761473-109761487
10	MAX	chr6:109761403-109762247	HUVEC	blood vessel:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
11	POLR2A	chr6:109761622-109762101	H1-hESC	embryonic stem cell:	n/a	n/a
12	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
13	BHLHE40	chr6:109761593-109762442	K562	blood:	n/a	n/a
14	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
15	POLR2A	chr6:109761490-109762901	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:109761435-109763358	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:109761614-109762904	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:109761591-109762972	K562	blood:	n/a	n/a
19	EP300	chr6:109761405-109762298	ECC-1	luminal epithelium:	n/a	chr6:109761903-109761919 chr6:109761880-109761896 chr6:109761866-109761882
20	MXI1	chr6:109760621-109763112	SK-N-SH	brain:	n/a	chr6:109762145-109762160 chr6:109761832-109761847
21	POLR2A	chr6:109761442-109762808	K562	blood:	n/a	n/a
22	EGR1	chr6:109761535-109762431	MCF-7	breast:	n/a	chr6:109761875-109761885 chr6:109761894-109761907 chr6:109761562-109761572 chr6:109761854-109761864 chr6:109761856-109761869
23	CTCF	chr6:109761540-109761690	AG09319	gingival:	n/a	chr6:109761565-109761578 chr6:109761571-109761584
24	ZBTB7A	chr6:109761331-109762684	K562	blood:	n/a	chr6:109761473-109761487
25	RCOR1	chr6:109761048-109762700	GM12878	blood:	n/a	n/a
26	MYC	chr6:109761346-109762787	K562	blood:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
27	CTCF	chr6:109761517-109761658	GM19238	blood:	n/a	chr6:109761565-109761578 chr6:109761571-109761584
28	POLR2A	chr6:109761545-109762856	NB4	blood:	n/a	n/a
29	HCFC1	chr6:109761459-109762696	K562	blood:	n/a	n/a
30	POLR2A	chr6:109761621-109762691	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:109761555-109762628	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr6:109761540-109761690	SAEC	small airway:	n/a	chr6:109761565-109761578 chr6:109761571-109761584
33	POLR2A	chr6:109761570-109763535	GM15510	blood:	n/a	n/a
34	YY1	chr6:109761414-109762364	HepG2	liver:	n/a	chr6:109761872-109761886 chr6:109762202-109762216 chr6:109761858-109761867 chr6:109761618-109761632 chr6:109761563-109761572 chr6:109761527-109761538
35	ZNF143	chr6:109761497-109762798	GM12878	blood:	n/a	chr6:109761846-109761864
36	YY1	chr6:109761508-109762171	SK-N-SH_RA	brain:	n/a	chr6:109761872-109761886 chr6:109761858-109761867 chr6:109761618-109761632 chr6:109761563-109761572 chr6:109761527-109761538
37	TAL1	chr6:109761392-109762036	K562	blood:	n/a	n/a
38	TBP	chr6:109760869-109762954	K562	blood:	n/a	n/a
39	MAX	chr6:109761365-109762285	SK-N-SH	brain:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
40	ZBTB7A	chr6:109761312-109762124	K562	blood:	n/a	chr6:109761473-109761487
41	YY1	chr6:109761381-109762257	GM12878	blood:	n/a	chr6:109761872-109761886 chr6:109762202-109762216 chr6:109761858-109761867 chr6:109761618-109761632 chr6:109761563-109761572 chr6:109761527-109761538
42	POLR2A	chr6:109761571-109762319	A549	lung:	n/a	n/a
43	YY1	chr6:109761598-109761977	HepG2	liver:	n/a	chr6:109761872-109761886 chr6:109761858-109761867 chr6:109761618-109761632
44	SIN3A	chr6:109761593-109762830	GM12878	blood:	n/a	n/a
45	MAX	chr6:109761366-109762869	GM12878	blood:	n/a	chr6:109761564-109761574 chr6:109762181-109762190
46	CTCF	chr6:109761500-109761650	GM12866	blood:	n/a	chr6:109761565-109761578 chr6:109761571-109761584
47	TCF12	chr6:109761274-109762326	A549	lung:	n/a	n/a
48	HCFC1	chr6:109761064-109762978	Hela-S3	cervix:	n/a	n/a
49	REST	chr6:109761469-109762161	K562	blood:	n/a	n/a
50	RAD21	chr6:109761595-109761659	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:109747606..109757389-chr6:109757828..109761794,11	K562	blood:
2	chr6:109703212..109703944-chr6:109761595..109762112,2	K562	blood:
3	chr6:109415348..109417479-chr6:109760287..109762549,2	K562	blood:
4	chr6:109702383..109706611-chr6:109760202..109762116,4	K562	blood:
5	chr6:109759652..109764361-chr6:109800705..109806354,8	K562	blood:
6	chr6:109414651..109418067-chr6:109760738..109763991,4	MCF-7	breast:
7	chr6:109702022..109707287-chr6:109760251..109763953,8	MCF-7	breast:
8	chr6:109760182..109762059-chr6:109802883..109805670,2	MCF-7	breast:
9	chr6:109759628..109764398-chr6:109803414..109806709,4	K562	blood:
10	chr6:108880181..108882285-chr6:109761167..109763162,2	MCF-7	breast:
11	chr6:109702065..109705528-chr6:109760483..109765471,8	MCF-7	breast:
12	chr6:109760146..109763576-chr6:109804047..109805770,3	MCF-7	breast:
13	chr6:109752212..109757242-chr6:109759553..109764133,7	MCF-7	breast:

Variant related genes	Relation type
SMPD2	TF binding region
ENSG00000118689	Chromatin interaction
ENSG00000239160	Chromatin interaction
ENSG00000260273	Chromatin interaction
ENSG00000183137	Chromatin interaction
ENSG00000112365	Chromatin interaction
ENSG00000080546	Chromatin interaction
ENSG00000135535	Chromatin interaction
ENSG00000185250	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109760200-109763200	Active TSS	A549	lung
2	chr6:109760400-109762400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:109760400-109762400	Active TSS	Duodenum Mucosa	Duodenum
4	chr6:109760400-109762600	Active TSS	Ovary	ovary
5	chr6:109760400-109762600	Active TSS	Rectal Smooth Muscle	rectum
6	chr6:109760400-109762800	Active TSS	Fetal Intestine Small	intestine
7	chr6:109760400-109763400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:109760600-109762400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:109760600-109762400	Active TSS	Colonic Mucosa	Colon
10	chr6:109760600-109762600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:109760600-109762600	Active TSS	Aorta	Aorta
12	chr6:109760600-109762600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr6:109760600-109762600	Active TSS	Fetal Intestine Large	intestine
14	chr6:109760600-109762800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:109760800-109761800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:109760800-109762400	Active TSS	Brain Germinal Matrix	brain
17	chr6:109760800-109762600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:109760800-109762600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:109760800-109762600	Active TSS	Brain Angular Gyrus	brain
20	chr6:109760800-109762600	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:109760800-109762600	Active TSS	Brain Hippocampus Middle	brain
22	chr6:109760800-109762600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:109760800-109762600	Active TSS	Esophagus	oesophagus
24	chr6:109760800-109762600	Active TSS	Pancreas	Pancrea
25	chr6:109760800-109762600	Active TSS	Right Atrium	heart
26	chr6:109760800-109762600	Active TSS	Stomach Mucosa	stomach
27	chr6:109760800-109762600	Active TSS	NHLF	lung
28	chr6:109760800-109762800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr6:109760800-109762800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:109760800-109762800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:109760800-109762800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:109760800-109762800	Active TSS	Colon Smooth Muscle	Colon
33	chr6:109760800-109762800	Active TSS	Gastric	stomach
34	chr6:109761000-109761800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr6:109761000-109761800	Flanking Active TSS	Dnd41	blood
36	chr6:109761000-109762400	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr6:109761000-109762400	Active TSS	Fetal Muscle Trunk	muscle
38	chr6:109761000-109762600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:109761000-109762600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:109761000-109762600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:109761000-109762600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:109761000-109762600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:109761000-109762600	Active TSS	Brain Substantia Nigra	brain
44	chr6:109761000-109762600	Active TSS	Left Ventricle	heart
45	chr6:109761000-109762600	Active TSS	Lung	lung
46	chr6:109761000-109762600	Active TSS	Psoas Muscle	Psoas
47	chr6:109761000-109762600	Active TSS	Right Ventricle	heart
48	chr6:109761000-109763000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:109761200-109761800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:109761200-109762000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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