Variant report

Variant	rs1867142
Chromosome Location	chr1:146556821-146556822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:146555809-146556886	K562	blood:	n/a	n/a
2	TCF7L2	chr1:146555541-146557042	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:146555434-146557191	K562	blood:	n/a	n/a
4	POLR2A	chr1:146555467-146557086	K562	blood:	n/a	n/a
5	PML	chr1:146555558-146556838	GM12878	blood:	n/a	n/a
6	MAX	chr1:146555782-146556860	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:146555520-146556849	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:146555564-146556843	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:146555656-146556852	Gliobla	brain:	n/a	n/a
10	KAP1	chr1:146555610-146557013	HEK293	kidney:	n/a	n/a
11	POLR2A	chr1:146555522-146556974	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:146555427-146556832	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr1:146555463-146557078	GM18505	blood:	n/a	n/a
14	CREB1	chr1:146556026-146556860	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:146555558-146556920	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:146555407-146556964	H1-neurons	neurons:	n/a	n/a
17	PML	chr1:146555869-146556868	MCF-7	breast:	n/a	n/a
18	POLR2A	chr1:146555655-146557083	K562	blood:	n/a	n/a
19	HEY1	chr1:146555551-146557164	K562	blood:	n/a	chr1:146556495-146556510
20	HEY1	chr1:146555085-146557466	K562	blood:	n/a	chr1:146556495-146556510
21	TBP	chr1:146555919-146556821	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:146555648-146557076	MCF10A-Er-Src	breast:	n/a	n/a
23	CUX1	chr1:146555823-146556823	K562	blood:	n/a	n/a
24	MAX	chr1:146555775-146556882	A549	lung:	n/a	n/a
25	PML	chr1:146555570-146557176	K562	blood:	n/a	n/a
26	CREB1	chr1:146555582-146556909	K562	blood:	n/a	n/a
27	POLR2A	chr1:146555679-146556823	ProgFib	skin:	n/a	n/a
28	POLR2A	chr1:146555334-146556837	GM12892	blood:	n/a	n/a
29	POLR2A	chr1:146555537-146557247	K562	blood:	n/a	n/a
30	TRIM28	chr1:146555594-146556834	K562	blood:	n/a	n/a
31	MAX	chr1:146555876-146556868	A549	lung:	n/a	n/a
32	POLR2A	chr1:146555298-146557243	MCF10A-Er-Src	breast:	n/a	n/a
33	MXI1	chr1:146555790-146557319	SK-N-SH	brain:	n/a	n/a
34	MAX	chr1:146555644-146556835	K562	blood:	n/a	n/a
35	SIN3AK20	chr1:146555734-146556824	K562	blood:	n/a	n/a
36	TCF12	chr1:146555736-146556828	A549	lung:	n/a	n/a
37	ATF2	chr1:146555915-146556826	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:146555424-146556871	GM19193	blood:	n/a	n/a
39	POLR2A	chr1:146555130-146557088	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr1:146555658-146556944	K562	blood:	n/a	n/a
41	POLR2A	chr1:146555520-146557124	K562	blood:	n/a	n/a
42	TBP	chr1:146555441-146557157	K562	blood:	n/a	n/a
43	POLR2A	chr1:146555622-146557040	K562	blood:	n/a	n/a
44	MAX	chr1:146555860-146556844	H1-hESC	embryonic stem cell:	n/a	n/a
45	TBL1XR1	chr1:146555878-146556870	K562	blood:	n/a	n/a
46	MYC	chr1:146555732-146556993	K562	blood:	n/a	n/a
47	CREB1	chr1:146556044-146556860	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:146555546-146557085	GM15510	blood:	n/a	n/a
49	POLR2A	chr1:146555354-146557241	GM12891	blood:	n/a	n/a
50	TAF1	chr1:146556020-146556849	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146555480..146557423-chr1:146582452..146585260,2	MCF-7	breast:
2	chr1:146555582..146557721-chr16:70906703..70908588,2	MCF-7	breast:
3	chr1:146556050..146557611-chr16:70910877..70913228,2	K562	blood:
4	chr1:146555308..146557751-chr1:146572492..146574636,3	MCF-7	breast:
5	chr1:146554717..146557790-chr1:146713275..146715735,7	MCF-7	breast:
6	chr1:146556597..146557184-chr15:59063588..59064562,2	Hela-S3	cervix:
7	chr1:146556130..146556822-chr4:95373100..95374050,2	Hela-S3	cervix:
8	chr1:146555657..146558762-chr1:146628491..146630489,3	K562	blood:
9	chr1:146554322..146557448-chr1:146695605..146698369,3	K562	blood:
10	chr1:146554504..146557399-chr1:146713775..146716499,4	MCF-7	breast:
11	chr1:146553836..146557884-chr1:146641755..146644199,5	MCF-7	breast:
12	chr1:146555745..146557403-chr7:75933099..75935893,2	MCF-7	breast:
13	chr1:146555458..146558111-chr16:71130666..71132660,2	K562	blood:
14	chr1:146555822..146557545-chr1:146680381..146682107,2	K562	blood:
15	chr1:146554548..146558121-chr1:149223419..149225403,4	MCF-7	breast:
16	chr1:146554384..146557759-chr1:149221710..149225398,8	K562	blood:
17	chr1:146554522..146557720-chr1:147805011..147808218,6	K562	blood:
18	chr1:146554412..146557592-chr1:149221795..149226039,8	K562	blood:
19	chr1:146556127..146557844-chr1:146621918..146623666,2	K562	blood:
20	chr1:146555785..146557578-chr1:146599828..146602177,2	MCF-7	breast:
21	chr1:146555833..146557676-chr1:146673742..146675974,2	K562	blood:
22	chr1:146555569..146557322-chr1:146680607..146682552,2	K562	blood:
23	chr1:146556287..146558878-chr1:146718178..146719701,2	K562	blood:
24	chr1:146550590..146559110-chr1:146711930..146718078,31	K562	blood:
25	chr1:146552515..146557737-chr1:146711619..146718083,31	K562	blood:
26	chr1:146554115..146557849-chr1:146637949..146646936,17	MCF-7	breast:
27	chr1:146556162..146556984-chr21:44527146..44527646,2	Hela-S3	cervix:
28	chr1:146555129..146557611-chr1:146720507..146722463,2	K562	blood:
29	chr1:144531278..144537146-chr1:146553717..146557612,11	K562	blood:
30	chr1:146556237..146558535-chr1:147070551..147072310,2	K562	blood:
31	chr1:146510544..146512904-chr1:146555893..146558120,2	K562	blood:
32	chr1:146502664..146505503-chr1:146555291..146557477,4	MCF-7	breast:
33	chr1:146554089..146558005-chr1:146638440..146645674,16	K562	blood:
34	chr1:146556283..146558041-chr16:71021213..71022835,2	K562	blood:
35	chr1:146555804..146557597-chr1:146578723..146581145,2	MCF-7	breast:
36	chr1:146554821..146557331-chr17:58468506..58470510,2	MCF-7	breast:
37	chr1:146554921..146557589-chr7:94462581..94464231,2	MCF-7	breast:
38	chr1:146555582..146557565-chr1:146708158..146710932,2	K562	blood:
39	chr1:146554089..146558005-chr1:146640920..146646223,16	K562	blood:
40	chr1:144532709..144537146-chr1:146553385..146558827,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230832	TF binding region
ENSG00000223316	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000116128	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000219807	Chromatin interaction
ENSG00000237188	Chromatin interaction
ENSG00000160201	Chromatin interaction
ENSG00000273071	Chromatin interaction
ENSG00000131791	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000131781	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1867143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60408196	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61838920	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7519720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539081	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv946298	chr1:146510432-146557539	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
10	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
16	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
17	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1867142	RP11-325P15.1	cis	lung	GTEx
rs1867142	GJA8	cis	cerebellum	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146555000-146557200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:146555000-146557200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr1:146555200-146557200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:146555200-146557200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:146555200-146557400	Active TSS	HSMMtube	muscle
6	chr1:146555400-146557000	Active TSS	Aorta	Aorta
7	chr1:146555400-146557000	Bivalent/Poised TSS	HepG2	liver
8	chr1:146555400-146557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:146555400-146557200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:146555400-146557400	Bivalent/Poised TSS	A549	lung
11	chr1:146555400-146557400	Bivalent/Poised TSS	NHDF-Ad	bronchial
12	chr1:146555600-146557000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:146555600-146557000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:146555600-146557000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:146555600-146557000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:146555600-146557000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr1:146555600-146557000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
18	chr1:146555600-146557000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr1:146555600-146557000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr1:146555600-146557000	Active TSS	HSMM	muscle
21	chr1:146555600-146557000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
22	chr1:146555600-146557200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:146555600-146557200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:146555600-146557200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr1:146555600-146557200	Active TSS	Hela-S3	cervix
26	chr1:146555600-146557400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:146555600-146557400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:146555600-146557400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr1:146555600-146557400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:146555600-146557400	Active TSS	NH-A	brain
31	chr1:146555800-146557000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:146555800-146557000	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr1:146555800-146557000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:146555800-146557000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
35	chr1:146555800-146557000	Active TSS	Liver	Liver
36	chr1:146555800-146557000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
37	chr1:146555800-146557000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:146555800-146557000	Active TSS	Esophagus	oesophagus
39	chr1:146555800-146557000	Bivalent/Poised TSS	Fetal Kidney	kidney
40	chr1:146555800-146557000	Bivalent/Poised TSS	NHLF	lung
41	chr1:146555800-146557200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr1:146555800-146557200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr1:146555800-146557200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:146555800-146557200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:146555800-146557200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:146555800-146557200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:146555800-146557200	Active TSS	Brain Substantia Nigra	brain
48	chr1:146555800-146557200	Active TSS	Duodenum Mucosa	Duodenum
49	chr1:146555800-146557200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:146555800-146557200	Active TSS	Rectal Mucosa Donor 29	rectum

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