Variant report

Variant	rs187907111
Chromosome Location	chr6:34665025-34665026
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	POLR2A	chr6:34664674-34665291	GM12891	blood:	n/a	n/a
2	IRF1	chr6:34664541-34665189	K562	blood:	n/a	chr6:34664806-34664820 chr6:34664897-34664913
3	CEBPB	chr6:34664601-34665305	A549	lung:	n/a	chr6:34665129-34665140
4	GTF2B	chr6:34664781-34665125	K562	blood:	n/a	n/a
5	MAZ	chr6:34663022-34665275	IMR90	lung:	n/a	n/a
6	POLR2A	chr6:34663985-34665203	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr6:34664081-34665053	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr6:34664504-34666032	K562	blood:	n/a	n/a
9	CREB1	chr6:34663844-34665332	HepG2	liver:	n/a	chr6:34664726-34664739
10	RELA	chr6:34664373-34665249	GM15510	blood:	n/a	n/a
11	CREB1	chr6:34664362-34665437	K562	blood:	n/a	chr6:34664726-34664739
12	SP1	chr6:34664516-34665042	A549	lung:	n/a	chr6:34664807-34664817 chr6:34664800-34664813 chr6:34664806-34664818 chr6:34664843-34664857 chr6:34664807-34664816 chr6:34664806-34664817 chr6:34664806-34664818 chr6:34664848-34664859 chr6:34664803-34664817 chr6:34664808-34664817
13	TAF1	chr6:34664263-34665101	K562	blood:	n/a	n/a
14	USF1	chr6:34664576-34665029	K562	blood:	n/a	n/a
15	ELK1	chr6:34664634-34665042	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr6:34664192-34665092	HepG2	liver:	n/a	n/a
17	TBP	chr6:34664804-34665321	HepG2	liver:	n/a	n/a
18	RCOR1	chr6:34664100-34666097	K562	blood:	n/a	n/a
19	MYBL2	chr6:34664651-34665308	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:34664283-34665463	K562	blood:	n/a	n/a
21	GABPA	chr6:34664368-34665137	MCF-7	breast:	n/a	chr6:34664807-34664816
22	ELF1	chr6:34663848-34665068	GM12878	blood:	n/a	n/a
23	CREB1	chr6:34664102-34665381	HepG2	liver:	n/a	chr6:34664726-34664739
24	PAX5	chr6:34664583-34665128	GM12878	blood:	n/a	n/a
25	USF1	chr6:34664447-34665041	ECC-1	luminal epithelium:	n/a	n/a
26	USF2	chr6:34664612-34665141	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:34664018-34665108	MCF-7	breast:	n/a	n/a
28	USF1	chr6:34664561-34665040	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr6:34664345-34666027	K562	blood:	n/a	n/a
30	CREB1	chr6:34664423-34665222	A549	lung:	n/a	chr6:34664726-34664739
31	ELF1	chr6:34664587-34665068	SK-N-SH	brain:	n/a	n/a
32	ZNF143	chr6:34664700-34665302	K562	blood:	n/a	n/a
33	IRF1	chr6:34664545-34665283	K562	blood:	n/a	chr6:34664806-34664820 chr6:34664897-34664913
34	ATF1	chr6:34664551-34665370	K562	blood:	n/a	chr6:34664738-34664752
35	CREB1	chr6:34664236-34665544	GM12878	blood:	n/a	chr6:34664726-34664739
36	NRF1	chr6:34664529-34665157	K562	blood:	n/a	chr6:34664653-34664664 chr6:34664807-34664816
37	SPI1	chr6:34664442-34665098	HL-60	blood:	n/a	chr6:34664839-34664852
38	CREB1	chr6:34664470-34665214	ECC-1	luminal epithelium:	n/a	chr6:34664726-34664739
39	POLR2A	chr6:34663852-34665298	GM12892	blood:	n/a	n/a
40	POLR2A	chr6:34664296-34665133	NB4	blood:	n/a	n/a
41	POLR2A	chr6:34664745-34665160	GM12892	blood:	n/a	n/a
42	PML	chr6:34664271-34665168	K562	blood:	n/a	n/a
43	POLR2A	chr6:34664209-34665211	MCF-7	breast:	n/a	n/a
44	POLR2A	chr6:34664359-34665301	K562	blood:	n/a	n/a
45	MAX	chr6:34664161-34665372	A549	lung:	n/a	n/a
46	CEBPB	chr6:34664623-34665447	A549	lung:	n/a	chr6:34665129-34665140
47	ELF1	chr6:34664464-34665044	MCF-7	breast:	n/a	n/a
48	POLR2A	chr6:34664506-34665153	GM12878	blood:	n/a	n/a
49	EGR1	chr6:34664320-34665105	HCT-116	colon:	n/a	chr6:34664585-34664599 chr6:34664807-34664817 chr6:34664808-34664821 chr6:34664804-34664826 chr6:34664625-34664639 chr6:34664806-34664816
50	MXI1	chr6:34664108-34665181	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:34663247..34666234-chr6:34723415..34727175,3	K562	blood:
2	chr6:34663461..34666396-chr6:34758437..34761219,3	K562	blood:
3	chr6:34663907..34669185-chr6:34723600..34728462,6	MCF-7	breast:
4	chr6:34660360..34662631-chr6:34662736..34665398,3	K562	blood:
5	chr6:34664734..34666755-chr6:34668036..34669637,2	K562	blood:
6	chr6:34433144..34435297-chr6:34663197..34665594,2	MCF-7	breast:
7	chr6:34659775..34661894-chr6:34663558..34666240,3	K562	blood:
8	chr6:34664965..34667279-chr6:34675934..34678672,3	K562	blood:
9	chr6:34663247..34666328-chr6:34722695..34726583,8	K562	blood:
10	chr6:34664585..34666258-chr6:34723626..34725241,2	MCF-7	breast:
11	chr6:34392408..34394621-chr6:34663502..34666102,2	K562	blood:
12	chr6:34649586..34652220-chr6:34663564..34665833,2	MCF-7	breast:
13	chr6:34584121..34585997-chr6:34662703..34665284,2	K562	blood:
14	chr6:34662945..34666396-chr6:34758284..34762755,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNRPC-2	chr6:34664936-34665247	ENSG00000272288.1
2	lnc-SNRPC-2	chr6:34664936-34665339	NONHSAT112145
3	lnc-SNRPC-2	chr6:34664936-34665247	ENSG00000272288.1

Variant related genes	Relation type
C6orf106	TF binding region
ENSG00000124562	Chromatin interaction
ENSG00000238484	Chromatin interaction
ENSG00000124614	Chromatin interaction
ENSG00000124507	Chromatin interaction
ENSG00000216636	Chromatin interaction
ENSG00000270800	Chromatin interaction
ENSG00000065060	Chromatin interaction
ENSG00000239059	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
10	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv5255	chr6:34658569-34703563	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	esv3341496	chr6:34663774-34665822	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr6:34659800-34665600	Active TSS	GM12878-XiMat	blood
2	chr6:34662200-34665400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:34662600-34665400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:34662800-34665200	Active TSS	Aorta	Aorta
5	chr6:34662800-34665200	Active TSS	Esophagus	oesophagus
6	chr6:34662800-34665200	Active TSS	Fetal Muscle Trunk	muscle
7	chr6:34662800-34665400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:34662800-34665400	Active TSS	HSMMtube	muscle
9	chr6:34662800-34665600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr6:34663000-34665200	Active TSS	Lung	lung
11	chr6:34663000-34665200	Active TSS	Pancreas	Pancrea
12	chr6:34663000-34665200	Active TSS	Stomach Mucosa	stomach
13	chr6:34663000-34665400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr6:34663200-34665200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:34663200-34665200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:34663200-34665200	Active TSS	Gastric	stomach
17	chr6:34663200-34665200	Active TSS	Left Ventricle	heart
18	chr6:34663200-34665400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:34663200-34665400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:34663200-34665400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:34663200-34665400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:34663200-34665400	Active TSS	Colon Smooth Muscle	Colon
23	chr6:34663200-34665400	Active TSS	Fetal Intestine Large	intestine
24	chr6:34663200-34665400	Active TSS	Ovary	ovary
25	chr6:34663200-34665600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:34663400-34665200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:34663400-34665200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:34663400-34665200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:34663400-34665200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:34663400-34665400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr6:34663400-34665400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:34663400-34665400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:34663400-34665400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr6:34663400-34665400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr6:34663400-34665400	Active TSS	HSMM	muscle
36	chr6:34663400-34665400	Active TSS	NHDF-Ad	bronchial
37	chr6:34663400-34665400	Active TSS	NHEK	skin
38	chr6:34663400-34665800	Active TSS	A549	lung
39	chr6:34663600-34665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:34663600-34665200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:34663600-34665200	Active TSS	Placenta Amnion	Placenta Amnion
42	chr6:34663600-34665200	Active TSS	Small Intestine	intestine
43	chr6:34663600-34665400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:34663600-34665400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr6:34663600-34665400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:34663600-34665400	Active TSS	Fetal Intestine Small	intestine
47	chr6:34663600-34665400	Active TSS	Psoas Muscle	Psoas
48	chr6:34663600-34665400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr6:34663600-34665400	Active TSS	Hela-S3	cervix
50	chr6:34663600-34665400	Active TSS	Osteobl	bone

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