Variant report

Variant	rs229910
Chromosome Location	chr6:134274036-134274037
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	GABPA	chr6:134273457-134274820	SK-N-SH	brain:	n/a	chr6:134274638-134274647 chr6:134274199-134274208
2	MYBL2	chr6:134273636-134274673	HepG2	liver:	n/a	n/a
3	TCF12	chr6:134273789-134274671	ECC-1	luminal epithelium:	n/a	chr6:134274486-134274496
4	NR3C1	chr6:134274026-134274612	A549	lung:	n/a	chr6:134274582-134274595 chr6:134274549-134274562
5	YY1	chr6:134273960-134274548	ECC-1	luminal epithelium:	n/a	chr6:134274107-134274116 chr6:134274199-134274208 chr6:134274520-134274531
6	GABPA	chr6:134273429-134274755	MCF-7	breast:	n/a	chr6:134274638-134274647 chr6:134274199-134274208
7	CUX1	chr6:134273827-134274396	K562	blood:	n/a	n/a
8	YY1	chr6:134273967-134274553	SK-N-SH_RA	brain:	n/a	chr6:134274107-134274116 chr6:134274199-134274208 chr6:134274520-134274531
9	CREB1	chr6:134273869-134274667	K562	blood:	n/a	n/a
10	EGR1	chr6:134274035-134274457	GM12878	blood:	n/a	chr6:134274108-134274121 chr6:134274199-134274209 chr6:134274194-134274207 chr6:134274195-134274209 chr6:134274197-134274207
11	CHD2	chr6:134273108-134274868	Hela-S3	cervix:	n/a	chr6:134273783-134273792
12	RCOR1	chr6:134273520-134274534	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:134273976-134274684	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:134273487-134276829	PBDE	blood:	n/a	n/a
15	RELA	chr6:134273564-134274593	GM18951	blood:	n/a	n/a
16	ELF1	chr6:134273956-134274622	HepG2	liver:	n/a	chr6:134274523-134274532 chr6:134274425-134274437 chr6:134274233-134274246
17	FOXP2	chr6:134274014-134274558	SK-N-MC	brain:	n/a	n/a
18	POU2F2	chr6:134274009-134274446	GM12878	blood:	n/a	chr6:134274203-134274215 chr6:134274196-134274208
19	POLR2A	chr6:134273016-134274744	PFSK-1	brain:	n/a	n/a
20	ELF1	chr6:134273931-134274503	A549	lung:	n/a	chr6:134274425-134274437 chr6:134274233-134274246
21	HDAC2	chr6:134273976-134274656	HepG2	liver:	n/a	n/a
22	MXI1	chr6:134272992-134274682	HepG2	liver:	n/a	n/a
23	JUND	chr6:134273119-134274571	K562	blood:	n/a	n/a
24	POLR2A	chr6:134273010-134274668	K562	blood:	n/a	n/a
25	POLR2A	chr6:134273475-134274640	PANC-1	pancreas:	n/a	n/a
26	MXI1	chr6:134273207-134274556	H1-hESC	embryonic stem cell:	n/a	n/a
27	IRF1	chr6:134273508-134274497	K562	blood:	n/a	chr6:134273689-134273698
28	MAX	chr6:134273546-134274062	H1-hESC	embryonic stem cell:	n/a	n/a
29	TBP	chr6:134273604-134274498	Hela-S3	cervix:	n/a	n/a
30	SIN3AK20	chr6:134273961-134274722	PANC-1	pancreas:	n/a	n/a
31	SIN3AK20	chr6:134273860-134274786	MCF-7	breast:	n/a	n/a
32	NFIC	chr6:134272987-134274455	GM12878	blood:	n/a	n/a
33	ZBTB33	chr6:134273921-134274603	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr6:134272881-134274732	GM18951	blood:	n/a	n/a
35	EP300	chr6:134274031-134274485	SK-N-SH_RA	brain:	n/a	chr6:134274107-134274116
36	NFIC	chr6:134273377-134274558	HepG2	liver:	n/a	n/a
37	NFIC	chr6:134273001-134274602	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr6:134274027-134274626	HepG2	liver:	n/a	n/a
39	PBX3	chr6:134273420-134274573	SK-N-SH	brain:	n/a	chr6:134273573-134273593
40	POLR2A	chr6:134273867-134274649	HL-60	blood:	n/a	n/a
41	BHLHE40	chr6:134272994-134274455	GM12878	blood:	n/a	n/a
42	MAX	chr6:134272996-134274912	HepG2	liver:	n/a	chr6:134274197-134274207 chr6:134274440-134274449 chr6:134274689-134274699
43	POLR2A	chr6:134273429-134274560	PANC-1	pancreas:	n/a	n/a
44	HEY1	chr6:134272931-134274541	HepG2	liver:	n/a	chr6:134274513-134274528 chr6:134274519-134274534
45	ATF2	chr6:134273616-134274446	GM12878	blood:	n/a	n/a
46	GABPA	chr6:134273165-134274730	SK-N-SH	brain:	n/a	chr6:134274638-134274647 chr6:134274199-134274208
47	TAF1	chr6:134274019-134274489	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr6:134274001-134274673	GM12878	blood:	n/a	n/a
49	RXRA	chr6:134274029-134274286	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:134273021-134274934	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:134274008-134274058	H1-hESC	embryonic stem cell:	embryo
2	chr6:134274008-134274058	AoSMC	blood vessel:	n/a
3	chr6:134274008-134274058	GM12892	blood:	n/a
4	chr6:134274008-134274058	PANC-1	pancreas:	n/a
5	chr6:134274008-134274058	HEK293	kidney:	embryo
6	chr6:134274008-134274058	HCT-116	colon:	n/a
7	chr6:134274008-134274058	SK-N-SH_RA	brain:	n/a
8	chr6:134274008-134274058	MCF-7	breast:	n/a
9	chr6:134274008-134274058	SAEC	small airway:	n/a
10	chr6:134274008-134274058	A549	lung:	n/a
11	chr6:134274008-134274058	MCF10A-Er-Src	breast:	n/a
12	chr6:134274008-134274058	BE2_C	brain:	n/a
13	chr6:134274008-134274058	RPTEC	kidney:	n/a
14	chr6:134274008-134274058	Caco-2	colon:	n/a
15	chr6:134274008-134274058	HCM	heart:	n/a
16	chr6:134274008-134274058	HCPEpiC	choroid plexus:	n/a
17	chr6:134274008-134274058	NHDF-neo	bronchial:	n/a
18	chr6:134274008-134274058	AG09319	gingival:	n/a
19	chr6:134274008-134274058	AG04449	skin:	fetal
20	chr6:134274008-134274058	GM12891	blood:	n/a
21	chr6:134274008-134274058	SKMC	muscle:	n/a
22	chr6:134274008-134274058	HEEpiC	esophagus:	n/a
23	chr6:134274008-134274058	GM06990	blood:	n/a
24	chr6:134274008-134274058	IMR90	lung:	fetal
25	chr6:134274008-134274058	PFSK-1	brain:	n/a
26	chr6:134274008-134274058	LNCaP	prostate:	n/a
27	chr6:134274008-134274058	HUVEC	blood vessel:	n/a
28	chr6:134274008-134274058	GM19239	blood:	n/a
29	chr6:134274008-134274058	HIPEpiC	eye:	n/a
30	chr6:134274008-134274058	U87	brain:	n/a
31	chr6:134274008-134274058	AG09309	skin:	n/a
32	chr6:134274008-134274058	NT2-D1	testis:	n/a
33	chr6:134274008-134274058	Jurkat	blood:	n/a
34	chr6:134274008-134274058	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:134274008-134274058	AG04450	lung:	fetal
36	chr6:134274008-134274058	Hepatocyte	liver:	n/a
37	chr6:134274008-134274058	K562	blood:	n/a
38	chr6:134274008-134274058	HRCEpiC	kidney:	n/a
39	chr6:134274008-134274058	HepG2	liver:	n/a
40	chr6:134274008-134274058	HCF	heart:	n/a
41	chr6:134274008-134274058	GM12878	blood:	n/a
42	chr6:134274008-134274058	HMEC	breast:	n/a
43	chr6:134274008-134274058	CMK	blood:	n/a
44	chr6:134274008-134274058	T-47D	breast:	n/a
45	chr6:134274008-134274058	HAEpiC	amniotic membrane:	n/a
46	chr6:134274008-134274058	NB4	blood:	n/a
47	chr6:134274008-134274058	HRPEpiC	eye:	n/a
48	chr6:134274008-134274058	BJ	skin:	n/a
49	chr6:134274008-134274058	HL-60	blood:	n/a
50	chr6:134274008-134274058	Hela-S3	cervix:	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
TBPL1	CpG island
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	chr6:134272400-134275200	Active TSS	Fetal Brain Female	brain
2	chr6:134272400-134275200	Active TSS	Fetal Kidney	kidney
3	chr6:134272400-134275200	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:134272400-134275400	Active TSS	Aorta	Aorta
5	chr6:134272600-134274400	Active TSS	Brain Germinal Matrix	brain
6	chr6:134272600-134274800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:134272600-134275000	Active TSS	Primary T cells fromperipheralblood	blood
8	chr6:134272600-134275200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:134272600-134275200	Active TSS	Brain Angular Gyrus	brain
10	chr6:134272600-134275200	Active TSS	Colonic Mucosa	Colon
11	chr6:134272600-134275200	Active TSS	Fetal Intestine Small	intestine
12	chr6:134272600-134275200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:134272600-134275200	Active TSS	Rectal Smooth Muscle	rectum
14	chr6:134272600-134275200	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr6:134272600-134275200	Active TSS	HMEC	breast
16	chr6:134272600-134275600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:134272600-134275600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:134272600-134275600	Active TSS	Ovary	ovary
19	chr6:134272600-134276200	Active TSS	Right Atrium	heart
20	chr6:134272800-134274200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr6:134272800-134274400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:134272800-134274800	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr6:134272800-134275000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:134272800-134275000	Active TSS	Brain Cingulate Gyrus	brain
25	chr6:134272800-134275000	Active TSS	Fetal Heart	heart
26	chr6:134272800-134275000	Active TSS	Fetal Intestine Large	intestine
27	chr6:134272800-134275000	Active TSS	Fetal Muscle Leg	muscle
28	chr6:134272800-134275000	Active TSS	Placenta	Placenta
29	chr6:134272800-134275000	Active TSS	Osteobl	bone
30	chr6:134272800-134275200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:134272800-134275200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:134272800-134275200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr6:134272800-134275200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:134272800-134275200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr6:134272800-134275200	Active TSS	Brain Hippocampus Middle	brain
36	chr6:134272800-134275200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr6:134272800-134275200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:134272800-134275200	Active TSS	Duodenum Mucosa	Duodenum
39	chr6:134272800-134275200	Active TSS	Fetal Stomach	stomach
40	chr6:134272800-134275200	Active TSS	Psoas Muscle	Psoas
41	chr6:134272800-134275200	Active TSS	Right Ventricle	heart
42	chr6:134272800-134275200	Active TSS	HSMM	muscle
43	chr6:134272800-134275200	Active TSS	NHDF-Ad	bronchial
44	chr6:134272800-134275200	Active TSS	NHLF	lung
45	chr6:134272800-134275400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:134272800-134275400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr6:134272800-134275400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:134272800-134275400	Active TSS	Fetal Muscle Trunk	muscle
49	chr6:134272800-134275400	Active TSS	A549	lung
50	chr6:134272800-134275600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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