Variant report

Variant	rs1251074
Chromosome Location	chr1:76190690-76190691
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:282)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr1:76189638-76190788	HepG2	liver:	n/a	n/a
2	MAZ	chr1:76189639-76190853	GM12878	blood:	n/a	chr1:76190102-76190112
3	POLR2A	chr1:76189138-76190794	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:76189802-76190718	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:76188834-76190820	K562	blood:	n/a	n/a
6	BHLHE40	chr1:76189589-76190874	K562	blood:	n/a	n/a
7	TAF1	chr1:76190174-76190807	Hela-S3	cervix:	n/a	n/a
8	PML	chr1:76189517-76190978	GM12878	blood:	n/a	n/a
9	MAX	chr1:76189569-76190837	K562	blood:	n/a	chr1:76190102-76190112
10	POU2F2	chr1:76189845-76190741	GM12891	blood:	n/a	chr1:76190520-76190532 chr1:76190096-76190108
11	POLR2A	chr1:76189753-76190840	HepG2	liver:	n/a	n/a
12	EGR1	chr1:76189725-76190841	HCT-116	colon:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
13	RFX5	chr1:76189384-76190821	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:76189561-76190902	HepG2	liver:	n/a	n/a
15	YY1	chr1:76189745-76190776	SK-N-SH	brain:	n/a	chr1:76190084-76190093
16	POLR2A	chr1:76189605-76190991	GM18526	blood:	n/a	n/a
17	PML	chr1:76189595-76190718	K562	blood:	n/a	n/a
18	TCF12	chr1:76189444-76190761	A549	lung:	n/a	chr1:76190582-76190589
19	REST	chr1:76190086-76190732	PFSK-1	brain:	n/a	chr1:76190284-76190297
20	TAF1	chr1:76189639-76190969	ECC-1	luminal epithelium:	n/a	n/a
21	CCNT2	chr1:76189838-76190765	K562	blood:	n/a	chr1:76190097-76190106
22	ELF1	chr1:76189910-76190737	GM12878	blood:	n/a	n/a
23	TAF1	chr1:76189628-76190771	ECC-1	luminal epithelium:	n/a	n/a
24	RCOR1	chr1:76189573-76190883	Hela-S3	cervix:	n/a	n/a
25	EGR1	chr1:76189848-76190699	K562	blood:	n/a	chr1:76190083-76190093 chr1:76190382-76190392
26	HEY1	chr1:76190085-76190827	HepG2	liver:	n/a	n/a
27	MYC	chr1:76188822-76190918	K562	blood:	n/a	chr1:76190102-76190112
28	POLR2A	chr1:76189565-76190861	GM12892	blood:	n/a	n/a
29	RUNX3	chr1:76189638-76190865	GM12878	blood:	n/a	n/a
30	TBP	chr1:76189244-76190760	GM12878	blood:	n/a	n/a
31	MAX	chr1:76189578-76190813	SK-N-SH	brain:	n/a	chr1:76190102-76190112
32	ELF1	chr1:76189772-76190851	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:76189169-76190755	PANC-1	pancreas:	n/a	n/a
34	FOXM1	chr1:76189782-76190735	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:76189441-76190931	K562	blood:	n/a	n/a
36	TBP	chr1:76189666-76190734	H1-hESC	embryonic stem cell:	n/a	n/a
37	MEF2C	chr1:76190089-76190807	GM12878	blood:	n/a	chr1:76190567-76190588 chr1:76190572-76190586
38	POLR2A	chr1:76189515-76190831	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:76189730-76190895	GM12891	blood:	n/a	n/a
40	POLR2A	chr1:76189592-76190841	PBDE	blood:	n/a	n/a
41	POLR2A	chr1:76189485-76191195	GM18505	blood:	n/a	n/a
42	POLR2A	chr1:76189751-76190736	GM12878	blood:	n/a	n/a
43	CEBPD	chr1:76190000-76190696	HepG2	liver:	n/a	n/a
44	MAX	chr1:76189673-76190841	K562	blood:	n/a	chr1:76190102-76190112
45	HCFC1	chr1:76189604-76190871	K562	blood:	n/a	n/a
46	POLR2A	chr1:76188970-76190848	HepG2	liver:	n/a	n/a
47	POLR2A	chr1:76189514-76190796	HUVEC	blood vessel:	n/a	n/a
48	RCOR1	chr1:76189250-76190827	K562	blood:	n/a	n/a
49	POLR2A	chr1:76189337-76190899	Hela-S3	cervix:	n/a	n/a
50	BHLHE40	chr1:76189760-76190902	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:76190666-76190716	PrEC	prostate:	n/a
2	chr1:76190666-76190716	IMR90	lung:	fetal
3	chr1:76190666-76190716	Jurkat	blood:	n/a
4	chr1:76190666-76190716	ovcar-3	ovarian:	n/a
5	chr1:76190666-76190716	LNCaP	prostate:	n/a
6	chr1:76190666-76190716	A549	lung:	n/a
7	chr1:76190666-76190716	HUVEC	blood vessel:	n/a
8	chr1:76190666-76190716	HRCEpiC	kidney:	n/a
9	chr1:76190666-76190716	PFSK-1	brain:	n/a
10	chr1:76190666-76190716	HEK293	kidney:	embryo
11	chr1:76190666-76190716	K562	blood:	n/a
12	chr1:76190666-76190716	HRE	kidney:	n/a
13	chr1:76190666-76190716	HepG2	liver:	n/a
14	chr1:76190666-76190716	HCF	heart:	n/a
15	chr1:76190666-76190716	MCF10A-Er-Src	breast:	n/a
16	chr1:76190666-76190716	MCF-7	breast:	n/a
17	chr1:76190666-76190716	T-47D	breast:	n/a
18	chr1:76190666-76190716	H1-hESC	embryonic stem cell:	embryo
19	chr1:76190666-76190716	PANC-1	pancreas:	n/a
20	chr1:76190666-76190716	NB4	blood:	n/a
21	chr1:76190666-76190716	GM19239	blood:	n/a
22	chr1:76190666-76190716	GM12891	blood:	n/a
23	chr1:76190666-76190716	AG04450	lung:	fetal
24	chr1:76190666-76190716	AG04449	skin:	fetal
25	chr1:76190666-76190716	Hela-S3	cervix:	n/a
26	chr1:76190666-76190716	AG10803	skin:	n/a
27	chr1:76190666-76190716	U87	brain:	n/a
28	chr1:76190666-76190716	NT2-D1	testis:	n/a
29	chr1:76190666-76190716	GM12892	blood:	n/a
30	chr1:76190666-76190716	SAEC	small airway:	n/a
31	chr1:76190666-76190716	AG09319	gingival:	n/a
32	chr1:76190666-76190716	HEEpiC	esophagus:	n/a
33	chr1:76190666-76190716	HNPCEpiC	eye:	n/a
34	chr1:76190666-76190716	NH-A	brain:	n/a
35	chr1:76190666-76190716	HCPEpiC	choroid plexus:	n/a
36	chr1:76190666-76190716	NHDF-neo	bronchial:	n/a
37	chr1:76190666-76190716	SK-N-MC	brain:	n/a
38	chr1:76190666-76190716	RPTEC	kidney:	n/a
39	chr1:76190666-76190716	SKMC	muscle:	n/a
40	chr1:76190666-76190716	CMK	blood:	n/a
41	chr1:76190666-76190716	SK-N-SH_RA	brain:	n/a
42	chr1:76190666-76190716	HIPEpiC	eye:	n/a
43	chr1:76190666-76190716	ProgFib	skin:	n/a
44	chr1:76190666-76190716	GM12878	blood:	n/a
45	chr1:76190666-76190716	Hepatocyte	liver:	n/a
46	chr1:76190666-76190716	HCT-116	colon:	n/a
47	chr1:76190666-76190716	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:76190666-76190716	HCM	heart:	n/a
49	chr1:76190666-76190716	GM06990	blood:	n/a
50	chr1:76190666-76190716	HL-60	blood:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76188769..76191418-chr1:76197121..76200007,3	MCF-7	breast:
2	chr1:76188658..76192178-chr1:76249968..76253902,5	MCF-7	breast:
3	chr1:76187424..76195796-chr1:76248839..76258922,52	K562	blood:
4	chr1:76189902..76190712-chr1:144533703..144534665,2	Hela-S3	cervix:
5	chr1:76190185..76192141-chr1:76251658..76253401,2	MCF-7	breast:
6	chr1:19971033..19971998-chr1:76190390..76190915,2	Hela-S3	cervix:
7	chr1:76190052..76193339-chr1:76196508..76198872,3	K562	blood:
8	chr1:76189917..76190733-chr20:34329839..34330374,2	Hela-S3	cervix:
9	chr1:76188740..76191486-chr1:76199573..76201902,4	K562	blood:
10	chr1:76188764..76194417-chr1:76259356..76264333,14	K562	blood:
11	chr1:76189028..76194220-chr1:76209012..76215464,6	K562	blood:
12	chr1:76186306..76195796-chr1:76248732..76266552,73	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178193	TF binding region
ENSG00000178193	CpG island
ENSG00000057468	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000181227	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000158747	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000131051	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1021463	1.00[EUR][1000 genomes]
rs1068884	1.00[EUR][1000 genomes]
rs10747330	1.00[EUR][1000 genomes]
rs10873726	1.00[EUR][1000 genomes]
rs10873786	1.00[EUR][1000 genomes]
rs1093007	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093010	1.00[EUR][1000 genomes]
rs11161785	1.00[EUR][1000 genomes]
rs11161801	1.00[EUR][1000 genomes]
rs1144330	1.00[EUR][1000 genomes]
rs1144332	1.00[EUR][1000 genomes]
rs1144335	1.00[EUR][1000 genomes]
rs1146575	1.00[EUR][1000 genomes]
rs1146576	1.00[EUR][1000 genomes]
rs1146578	1.00[EUR][1000 genomes]
rs1146585	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146586	1.00[EUR][1000 genomes]
rs1146589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146595	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146596	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146597	0.89[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146599	0.81[ASW][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146600	0.81[ASW][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146601	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146604	1.00[EUR][1000 genomes]
rs1146621	1.00[EUR][1000 genomes]
rs1146633	1.00[EUR][1000 genomes]
rs1146640	1.00[EUR][1000 genomes]
rs12070736	1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs12073631	0.83[AMR][1000 genomes]
rs12079369	1.00[MEX][hapmap]
rs12091293	1.00[MEX][hapmap]
rs1250879	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251066	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251076	0.95[AFR][1000 genomes]
rs1251271	1.00[EUR][1000 genomes]
rs1469988	1.00[EUR][1000 genomes]
rs1565718	1.00[EUR][1000 genomes]
rs1565719	1.00[EUR][1000 genomes]
rs1591119	1.00[EUR][1000 genomes]
rs1658743	1.00[EUR][1000 genomes]
rs1694408	1.00[EUR][1000 genomes]
rs1694423	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1746747	0.82[LWK][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes]
rs1759274	0.83[AMR][1000 genomes]
rs1759275	0.83[AMR][1000 genomes]
rs1770514	1.00[EUR][1000 genomes]
rs1770884	1.00[EUR][1000 genomes]
rs211714	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs211720	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs211734	1.00[EUR][1000 genomes]
rs211735	1.00[EUR][1000 genomes]
rs211738	1.00[EUR][1000 genomes]
rs211739	1.00[EUR][1000 genomes]
rs2347963	1.00[EUR][1000 genomes]
rs3119821	1.00[EUR][1000 genomes]
rs381183	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392695	1.00[EUR][1000 genomes]
rs445008	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696678	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs699678	0.83[AMR][1000 genomes]
rs699684	1.00[EUR][1000 genomes]
rs699685	1.00[EUR][1000 genomes]
rs699686	1.00[EUR][1000 genomes]
rs699687	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699688	1.00[EUR][1000 genomes]
rs699689	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699823	0.94[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699826	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7541791	1.00[EUR][1000 genomes]
rs814846	1.00[EUR][1000 genomes]
rs814852	1.00[EUR][1000 genomes]
rs814854	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs815300	1.00[EUR][1000 genomes]
rs815302	1.00[EUR][1000 genomes]
rs815312	1.00[EUR][1000 genomes]
rs9437227	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv932955	chr1:76189923-76190791	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 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	chr1:76189000-76191200	Active TSS	Brain Hippocampus Middle	brain
2	chr1:76189000-76191400	Active TSS	A549	lung
3	chr1:76189000-76191600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76189000-76191600	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr1:76189200-76191000	Active TSS	Fetal Brain Male	brain
6	chr1:76189200-76191400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:76189200-76191600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:76189200-76191600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:76189200-76191600	Active TSS	Brain Anterior Caudate	brain
10	chr1:76189200-76191800	Active TSS	Esophagus	oesophagus
11	chr1:76189200-76191800	Active TSS	HSMM	muscle
12	chr1:76189200-76192000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:76189200-76192400	Active TSS	HMEC	breast
14	chr1:76189200-76192400	Active TSS	NHDF-Ad	bronchial
15	chr1:76189400-76190800	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:76189400-76191200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:76189400-76191200	Active TSS	Fetal Heart	heart
18	chr1:76189400-76191200	Active TSS	Fetal Kidney	kidney
19	chr1:76189400-76191400	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:76189400-76191400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr1:76189400-76191400	Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:76189400-76191400	Active TSS	Aorta	Aorta
23	chr1:76189400-76191400	Active TSS	Fetal Muscle Trunk	muscle
24	chr1:76189400-76191400	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:76189400-76191600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:76189400-76191600	Active TSS	Fetal Muscle Leg	muscle
27	chr1:76189400-76191600	Active TSS	Fetal Thymus	thymus
28	chr1:76189400-76191600	Active TSS	HSMMtube	muscle
29	chr1:76189400-76191600	Active TSS	Osteobl	bone
30	chr1:76189400-76191800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:76189400-76191800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:76189400-76191800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:76189400-76191800	Active TSS	Fetal Stomach	stomach
34	chr1:76189400-76191800	Active TSS	Psoas Muscle	Psoas
35	chr1:76189400-76191800	Active TSS	Right Ventricle	heart
36	chr1:76189400-76192000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:76189400-76192000	Active TSS	HepG2	liver
38	chr1:76189400-76192000	Active TSS	NHLF	lung
39	chr1:76189400-76192200	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:76189400-76192200	Active TSS	Ovary	ovary
41	chr1:76189400-76192400	Active TSS	Colonic Mucosa	Colon
42	chr1:76189600-76190800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:76189600-76190800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:76189600-76190800	Active TSS	Gastric	stomach
45	chr1:76189600-76190800	Active TSS	Spleen	Spleen
46	chr1:76189600-76191000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:76189600-76191000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:76189600-76191000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:76189600-76191000	Active TSS	Lung	lung
50	chr1:76189600-76191200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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