Variant report

Variant	rs149370723
Chromosome Location	chr6:15248332-15248333
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	CHD2	chr6:15247900-15249524	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:15247900-15248597	K562	blood:	n/a	n/a
3	SIN3AK20	chr6:15248053-15248468	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:15247950-15249674	H1-neurons	neurons:	n/a	n/a
5	YY1	chr6:15248305-15248625	GM12891	blood:	n/a	n/a
6	POLR2A	chr6:15248066-15248478	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr6:15247870-15249858	GM12878	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
8	TAF1	chr6:15247933-15248394	A549	lung:	n/a	n/a
9	CREB1	chr6:15248096-15249493	A549	lung:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
10	CHD2	chr6:15248204-15248449	HepG2	liver:	n/a	n/a
11	ATF2	chr6:15248031-15248469	H1-hESC	embryonic stem cell:	n/a	n/a
12	RUNX3	chr6:15247947-15248419	GM12878	blood:	n/a	n/a
13	ZBTB7A	chr6:15248129-15249179	K562	blood:	n/a	chr6:15248701-15248710
14	GATA3	chr6:15247675-15248356	MCF-7	breast:	n/a	chr6:15247976-15247983 chr6:15247975-15247983 chr6:15247972-15247988
15	POLR2A	chr6:15247921-15248583	K562	blood:	n/a	n/a
16	CREB1	chr6:15248155-15249672	HepG2	liver:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
17	CREB1	chr6:15247845-15250008	K562	blood:	n/a	chr6:15248972-15248985 chr6:15249021-15249034
18	YY1	chr6:15248132-15248537	GM12892	blood:	n/a	n/a
19	CTCF	chr6:15248300-15248450	GM12864	blood:	n/a	n/a
20	POLR2A	chr6:15248109-15248369	HepG2	liver:	n/a	n/a
21	MAX	chr6:15247952-15249665	HepG2	liver:	n/a	n/a
22	NR2F2	chr6:15246711-15248457	K562	blood:	n/a	n/a
23	SMARCB1	chr6:15248060-15249597	Hela-S3	cervix:	n/a	n/a
24	HDAC2	chr6:15248191-15248641	HepG2	liver:	n/a	n/a
25	POLR2A	chr6:15248023-15249417	K562	blood:	n/a	n/a
26	RUNX3	chr6:15248003-15248435	GM12878	blood:	n/a	n/a
27	E2F4	chr6:15248133-15248346	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr6:15247988-15248420	GM12891	blood:	n/a	n/a
29	CTCF	chr6:15248310-15248611	H1-hESC	embryonic stem cell:	n/a	n/a
30	TBP	chr6:15247837-15248429	K562	blood:	n/a	n/a
31	ZBTB7A	chr6:15248291-15249161	HepG2	liver:	n/a	chr6:15248701-15248710
32	JUND	chr6:15248264-15248375	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3AK20	chr6:15247987-15248560	K562	blood:	n/a	n/a
34	ZMIZ1	chr6:15248201-15248343	K562	blood:	n/a	n/a
35	REST	chr6:15247989-15248537	HL-60	blood:	n/a	n/a
36	RAD21	chr6:15244609-15249567	IMR90	lung:	n/a	chr6:15248721-15248734 chr6:15249188-15249197
37	E2F6	chr6:15248188-15249536	K562	blood:	n/a	chr6:15248973-15248982 chr6:15248906-15248917 chr6:15248702-15248711 chr6:15248975-15248984 chr6:15249022-15249031
38	POLR2A	chr6:15248043-15249620	GM12892	blood:	n/a	n/a
39	GATA2	chr6:15246600-15248381	SH-SY5Y	brain:	n/a	chr6:15247976-15247983 chr6:15247972-15247988
40	GATA2	chr6:15246768-15248361	HUVEC	blood vessel:	n/a	chr6:15247976-15247983 chr6:15247972-15247988
41	POLR2A	chr6:15248078-15248530	GM12878	blood:	n/a	n/a
42	POLR2A	chr6:15248106-15248465	MCF-7	breast:	n/a	n/a
43	MYC	chr6:15248065-15249572	NB4	blood:	n/a	n/a
44	TBP	chr6:15248034-15248372	HepG2	liver:	n/a	n/a
45	HEY1	chr6:15248036-15248384	HepG2	liver:	n/a	n/a
46	E2F4	chr6:15248125-15249314	K562	blood:	n/a	chr6:15248973-15248982 chr6:15248702-15248711 chr6:15248975-15248984 chr6:15249022-15249031
47	HEY1	chr6:15247951-15248555	K562	blood:	n/a	n/a
48	TAF1	chr6:15248073-15248357	GM12891	blood:	n/a	n/a
49	UBTF	chr6:15247953-15249575	K562	blood:	n/a	n/a
50	MAX	chr6:15247957-15248647	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:14695043..14697656-chr6:15246930..15248844,2	K562	blood:
2	chr6:15247857..15248661-chr6:15441250..15442133,2	MCF-7	breast:
3	chr6:15085986..15094450-chr6:15243173..15249347,32	MCF-7	breast:
4	chr1:155278025..155278903-chr6:15248328..15249078,2	Hela-S3	cervix:
5	chr6:15238350..15240596-chr6:15246578..15248795,2	MCF-7	breast:
6	chr6:15088518..15090840-chr6:15243708..15248817,8	MCF-7	breast:
7	chr18:57566476..57568620-chr6:15247479..15249980,2	K562	blood:
8	chr6:15248004..15250330-chr6:15324617..15327935,3	K562	blood:
9	chr12:54673793..54674774-chr6:15248174..15248787,2	Hela-S3	cervix:
10	chr6:15087836..15090279-chr6:15247303..15249952,4	K562	blood:
11	chr6:15090854..15092609-chr6:15247191..15248815,2	MCF-7	breast:
12	chr6:15147856..15151805-chr6:15244004..15248641,4	MCF-7	breast:
13	chr6:15087697..15092455-chr6:15243972..15249952,11	K562	blood:
14	chr6:15247440..15249791-chr6:15324617..15327427,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTNBP1-3	chr6:15248049-15248375	NONHSAT107868

Variant related genes	Relation type
ENSG00000271888	TF binding region
JARID2	TF binding region
ENSG00000135486	Chromatin interaction
ENSG00000201519	Chromatin interaction
ENSG00000141682	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000094916	Chromatin interaction
ENSG00000234261	Chromatin interaction
ENSG00000264687	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830594	chr6:15171158-15261296	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1818166	chr6:15247393-15250052	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv3426622	chr6:15247498-15250346	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3511820	chr6:15247723-15249971	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv3511821	chr6:15247723-15249971	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv3437390	chr6:15248023-15249771	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv13446	chr6:15248316-15249040	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr6:15243200-15248400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:15243600-15250200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:15243800-15248400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:15244000-15250000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:15244200-15249400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:15244200-15249800	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:15244400-15249200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:15244400-15249400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:15244400-15249600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:15244400-15250200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:15244400-15250400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:15244600-15248400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:15244600-15248400	Active TSS	NHDF-Ad	bronchial
14	chr6:15244600-15249200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:15244600-15249200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:15244600-15249200	Active TSS	Duodenum Mucosa	Duodenum
17	chr6:15244600-15249200	Active TSS	NH-A	brain
18	chr6:15244600-15249200	Active TSS	Osteobl	bone
19	chr6:15244600-15249400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:15244600-15249400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:15244600-15249400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:15244600-15249400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:15244600-15249400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:15244600-15249400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:15244600-15249400	Active TSS	Brain Anterior Caudate	brain
26	chr6:15244600-15249400	Active TSS	Fetal Intestine Large	intestine
27	chr6:15244600-15249400	Active TSS	Thymus	Thymus
28	chr6:15244600-15249400	Active TSS	HSMM	muscle
29	chr6:15244600-15249600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:15244600-15249600	Active TSS	Brain Angular Gyrus	brain
31	chr6:15244600-15249600	Active TSS	Right Ventricle	heart
32	chr6:15244600-15249800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:15244600-15249800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:15244600-15249800	Active TSS	Ovary	ovary
35	chr6:15244600-15249800	Active TSS	Psoas Muscle	Psoas
36	chr6:15244600-15250000	Active TSS	NHLF	lung
37	chr6:15244600-15250200	Active TSS	A549	lung
38	chr6:15244600-15250400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:15244800-15249200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:15244800-15249200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr6:15244800-15249200	Active TSS	Left Ventricle	heart
42	chr6:15244800-15249200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr6:15244800-15249400	Active TSS	Brain Substantia Nigra	brain
44	chr6:15244800-15249400	Active TSS	Fetal Kidney	kidney
45	chr6:15244800-15249400	Active TSS	Fetal Lung	lung
46	chr6:15244800-15249400	Active TSS	Lung	lung
47	chr6:15244800-15249600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:15244800-15249600	Active TSS	Gastric	stomach
49	chr6:15244800-15249600	Active TSS	HSMMtube	muscle
50	chr6:15244800-15249800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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