Variant report

Variant	rs182377270
Chromosome Location	chr6:134273647-134273648
allele	A/C
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	POLR2A	chr6:134273371-134273895	HCT-116	colon:	n/a	n/a
2	GABPA	chr6:134273457-134274820	SK-N-SH	brain:	n/a	chr6:134274638-134274647 chr6:134274199-134274208
3	MYBL2	chr6:134273636-134274673	HepG2	liver:	n/a	n/a
4	GABPA	chr6:134273429-134274755	MCF-7	breast:	n/a	chr6:134274638-134274647 chr6:134274199-134274208
5	MYC	chr6:134273160-134273733	MCF-7	breast:	n/a	n/a
6	CHD2	chr6:134273108-134274868	Hela-S3	cervix:	n/a	chr6:134273783-134273792
7	RCOR1	chr6:134273520-134274534	Hela-S3	cervix:	n/a	n/a
8	MYC	chr6:134273439-134273701	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr6:134273487-134276829	PBDE	blood:	n/a	n/a
10	RELA	chr6:134273564-134274593	GM18951	blood:	n/a	n/a
11	TCF7L2	chr6:134272872-134273746	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr6:134273016-134274744	PFSK-1	brain:	n/a	n/a
13	MXI1	chr6:134272992-134274682	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:134273033-134273753	ECC-1	luminal epithelium:	n/a	n/a
15	JUND	chr6:134273119-134274571	K562	blood:	n/a	n/a
16	POLR2A	chr6:134273010-134274668	K562	blood:	n/a	n/a
17	POLR2A	chr6:134273475-134274640	PANC-1	pancreas:	n/a	n/a
18	MXI1	chr6:134273207-134274556	H1-hESC	embryonic stem cell:	n/a	n/a
19	IRF1	chr6:134273508-134274497	K562	blood:	n/a	chr6:134273689-134273698
20	MAX	chr6:134273546-134274062	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr6:134273604-134274498	Hela-S3	cervix:	n/a	n/a
22	NFIC	chr6:134272987-134274455	GM12878	blood:	n/a	n/a
23	CTCF	chr6:134273612-134273690	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:134272881-134274732	GM18951	blood:	n/a	n/a
25	NFIC	chr6:134273377-134274558	HepG2	liver:	n/a	n/a
26	NFIC	chr6:134273001-134274602	GM12878	blood:	n/a	n/a
27	PBX3	chr6:134273420-134274573	SK-N-SH	brain:	n/a	chr6:134273573-134273593
28	BHLHE40	chr6:134272994-134274455	GM12878	blood:	n/a	n/a
29	MXI1	chr6:134273009-134273677	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr6:134273043-134273810	GM12891	blood:	n/a	n/a
31	MAX	chr6:134273055-134273795	Hela-S3	cervix:	n/a	n/a
32	MAX	chr6:134272996-134274912	HepG2	liver:	n/a	chr6:134274197-134274207 chr6:134274440-134274449 chr6:134274689-134274699
33	POLR2A	chr6:134273099-134273876	Gliobla	brain:	n/a	n/a
34	POLR2A	chr6:134273429-134274560	PANC-1	pancreas:	n/a	n/a
35	HEY1	chr6:134272931-134274541	HepG2	liver:	n/a	chr6:134274513-134274528 chr6:134274519-134274534
36	ATF2	chr6:134273616-134274446	GM12878	blood:	n/a	n/a
37	GABPA	chr6:134273165-134274730	SK-N-SH	brain:	n/a	chr6:134274638-134274647 chr6:134274199-134274208
38	POLR2A	chr6:134272923-134273780	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:134273537-134273863	GM12891	blood:	n/a	n/a
40	POLR2A	chr6:134273021-134274934	HepG2	liver:	n/a	n/a
41	IRF1	chr6:134273513-134274530	K562	blood:	n/a	chr6:134273689-134273698
42	ZNF384	chr6:134272870-134274460	K562	blood:	n/a	chr6:134272950-134272958
43	MAZ	chr6:134272821-134274582	GM12878	blood:	n/a	chr6:134274197-134274207 chr6:134274440-134274449
44	POLR2A	chr6:134273154-134273853	MCF-7	breast:	n/a	n/a
45	EBF1	chr6:134273177-134273781	GM12878	blood:	n/a	chr6:134273381-134273392 chr6:134273566-134273579 chr6:134273353-134273366
46	POLR2A	chr6:134273080-134273793	A549	lung:	n/a	n/a
47	POLR2A	chr6:134273090-134274786	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:134273580-134273730	GM12873	blood:	n/a	n/a
49	POLR2A	chr6:134273063-134274682	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr6:134273004-134273882	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133132887..133135811-chr6:134273188..134277510,5	K562	blood:
2	chr6:134273314..134277341-chr6:134371733..134374606,4	K562	blood:

Variant related genes	Relation type
TBPL1	TF binding region
ENSG00000112306	Chromatin interaction
ENSG00000146411	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv1840176	chr6:134268822-134274297	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3387903	chr6:134272809-134276207	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134272400-134274000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:134272400-134275200	Active TSS	Fetal Brain Female	brain
3	chr6:134272400-134275200	Active TSS	Fetal Kidney	kidney
4	chr6:134272400-134275200	Active TSS	Stomach Smooth Muscle	stomach
5	chr6:134272400-134275400	Active TSS	Aorta	Aorta
6	chr6:134272600-134273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr6:134272600-134274400	Active TSS	Brain Germinal Matrix	brain
8	chr6:134272600-134274800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:134272600-134275000	Active TSS	Primary T cells fromperipheralblood	blood
10	chr6:134272600-134275200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:134272600-134275200	Active TSS	Brain Angular Gyrus	brain
12	chr6:134272600-134275200	Active TSS	Colonic Mucosa	Colon
13	chr6:134272600-134275200	Active TSS	Fetal Intestine Small	intestine
14	chr6:134272600-134275200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:134272600-134275200	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:134272600-134275200	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr6:134272600-134275200	Active TSS	HMEC	breast
18	chr6:134272600-134275600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:134272600-134275600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:134272600-134275600	Active TSS	Ovary	ovary
21	chr6:134272600-134276200	Active TSS	Right Atrium	heart
22	chr6:134272800-134273800	Flanking Bivalent TSS/Enh	Dnd41	blood
23	chr6:134272800-134273800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr6:134272800-134274200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr6:134272800-134274400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:134272800-134274800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr6:134272800-134275000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:134272800-134275000	Active TSS	Brain Cingulate Gyrus	brain
29	chr6:134272800-134275000	Active TSS	Fetal Heart	heart
30	chr6:134272800-134275000	Active TSS	Fetal Intestine Large	intestine
31	chr6:134272800-134275000	Active TSS	Fetal Muscle Leg	muscle
32	chr6:134272800-134275000	Active TSS	Placenta	Placenta
33	chr6:134272800-134275000	Active TSS	Osteobl	bone
34	chr6:134272800-134275200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:134272800-134275200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:134272800-134275200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr6:134272800-134275200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:134272800-134275200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:134272800-134275200	Active TSS	Brain Hippocampus Middle	brain
40	chr6:134272800-134275200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr6:134272800-134275200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:134272800-134275200	Active TSS	Duodenum Mucosa	Duodenum
43	chr6:134272800-134275200	Active TSS	Fetal Stomach	stomach
44	chr6:134272800-134275200	Active TSS	Psoas Muscle	Psoas
45	chr6:134272800-134275200	Active TSS	Right Ventricle	heart
46	chr6:134272800-134275200	Active TSS	HSMM	muscle
47	chr6:134272800-134275200	Active TSS	NHDF-Ad	bronchial
48	chr6:134272800-134275200	Active TSS	NHLF	lung
49	chr6:134272800-134275400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr6:134272800-134275400	Active TSS	H1 Cell Line	embryonic stem cell

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