Variant report

Variant	rs7535048
Chromosome Location	chr1:197171182-197171183
allele	A/C
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	ATF2	chr1:197170451-197171192	GM12878	blood:	n/a	n/a
2	USF2	chr1:197170530-197171339	Hela-S3	cervix:	n/a	n/a
3	HMGN3	chr1:197170224-197171266	K562	blood:	n/a	n/a
4	POLR2A	chr1:197169708-197171333	K562	blood:	n/a	n/a
5	RCOR1	chr1:197169457-197171496	Hela-S3	cervix:	n/a	n/a
6	MYC	chr1:197170544-197171182	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr1:197169600-197171402	H1-hESC	embryonic stem cell:	n/a	n/a
8	KAP1	chr1:197170567-197171486	HEK293	kidney:	n/a	n/a
9	POLR2A	chr1:197169189-197171283	GM12878	blood:	n/a	n/a
10	CHD1	chr1:197170620-197171609	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:197169405-197171351	Hela-S3	cervix:	n/a	n/a
12	MAX	chr1:197169525-197171542	Hela-S3	cervix:	n/a	chr1:197171270-197171280
13	NFIC	chr1:197170471-197171343	GM12878	blood:	n/a	n/a
14	GATA1	chr1:197170582-197171390	PBDE	blood:	n/a	chr1:197171049-197171059
15	IRF1	chr1:197170139-197171241	K562	blood:	n/a	chr1:197171056-197171076 chr1:197171050-197171070 chr1:197171055-197171069
16	MAZ	chr1:197169298-197171231	K562	blood:	n/a	n/a
17	SMARCC1	chr1:197169169-197171341	Hela-S3	cervix:	n/a	n/a
18	SIN3AK20	chr1:197169341-197171230	MCF-7	breast:	n/a	n/a
19	POLR2A	chr1:197169874-197171417	H1-hESC	embryonic stem cell:	n/a	n/a
20	ARID3A	chr1:197170259-197171301	HepG2	liver:	n/a	n/a
21	TAL1	chr1:197170597-197171279	K562	blood:	n/a	n/a
22	POLR2A	chr1:197169137-197171515	GM12891	blood:	n/a	n/a
23	TEAD4	chr1:197169966-197171567	K562	blood:	n/a	n/a
24	TCF12	chr1:197169630-197171208	A549	lung:	n/a	n/a
25	POLR2A	chr1:197169394-197171752	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:197169483-197171468	SK-N-MC	brain:	n/a	n/a
27	GATA3	chr1:197170430-197171519	T-47D	breast:	n/a	chr1:197171049-197171059
28	RFX5	chr1:197169337-197171431	Hela-S3	cervix:	n/a	n/a
29	MAFK	chr1:197170254-197171352	Hela-S3	cervix:	n/a	chr1:197170930-197170946 chr1:197170724-197170739
30	RCOR1	chr1:197169397-197171399	K562	blood:	n/a	n/a
31	CHD2	chr1:197169823-197171355	Hela-S3	cervix:	n/a	n/a
32	CCNT2	chr1:197169302-197171216	K562	blood:	n/a	n/a
33	ZNF143	chr1:197170207-197171377	H1-hESC	embryonic stem cell:	n/a	n/a
34	MTA3	chr1:197169685-197171333	GM12878	blood:	n/a	n/a
35	ZNF143	chr1:197170265-197171302	K562	blood:	n/a	n/a
36	GTF2F1	chr1:197169624-197171340	Hela-S3	cervix:	n/a	n/a
37	IRF1	chr1:197170245-197171218	K562	blood:	n/a	chr1:197171056-197171076 chr1:197171050-197171070 chr1:197171055-197171069
38	POLR2A	chr1:197169967-197171284	Raji	blood:	n/a	n/a
39	GATA3	chr1:197170922-197171639	SH-SY5Y	brain:	n/a	chr1:197171049-197171059
40	JUND	chr1:197169146-197171283	K562	blood:	n/a	chr1:197170670-197170684
41	GATA3	chr1:197171012-197171325	T-47D	breast:	n/a	chr1:197171049-197171059
42	ZNF263	chr1:197169185-197171657	HEK293-T-REx	kidney:	n/a	n/a
43	GATA2	chr1:197169385-197171577	SH-SY5Y	brain:	n/a	chr1:197171049-197171059
44	MAX	chr1:197169860-197171405	GM12878	blood:	n/a	chr1:197171270-197171280
45	ZNF384	chr1:197170581-197171189	GM12878	blood:	n/a	n/a
46	MAZ	chr1:197169943-197171468	IMR90	lung:	n/a	chr1:197171270-197171280
47	ZNF143	chr1:197169898-197171339	GM12878	blood:	n/a	n/a
48	EP300	chr1:197170215-197171410	K562	blood:	n/a	chr1:197170428-197170435
49	MXI1	chr1:197169404-197171363	Hela-S3	cervix:	n/a	n/a
50	TBP	chr1:197169149-197171449	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:197169410..197171188-chr1:197190699..197192659,2	MCF-7	breast:
2	chr1:197170728..197171396-chr5:179050478..179051116,2	Hela-S3	cervix:
3	chr1:197112577..197117711-chr1:197168565..197172597,7	K562	blood:
4	chr1:197112577..197117470-chr1:197168821..197172597,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFHR5-2	chr1:197170771-197172215	NONHSAT008616

Variant related genes	Relation type
ZBTB41	TF binding region
ENSG00000237861	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000066279	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1034162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10429911	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10494748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10494749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10494750	1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10494751	1.00[ASN][1000 genomes]
rs10732295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10732296	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801594	1.00[CHB][hapmap]
rs11800461	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11801772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11806323	1.00[AMR][1000 genomes]
rs11806948	1.00[AMR][1000 genomes]
rs11808524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11808883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11809356	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs11809963	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11811295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1412631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1415217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1556763	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1571964	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16841212	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16841219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16841220	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16841237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16841318	0.90[AMR][1000 genomes]
rs1759013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1794003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4915378	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs59820773	1.00[ASN][1000 genomes]
rs60959014	0.90[AMR][1000 genomes]
rs61172533	1.00[ASN][1000 genomes]
rs6677082	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6679097	0.90[AMR][1000 genomes]
rs6695937	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6700604	1.00[ASN][1000 genomes]
rs6702338	1.00[ASN][1000 genomes]
rs6702739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6703400	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7520503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7534439	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr1:197166400-197171400	Active TSS	K562	blood
2	chr1:197166400-197171600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:197166400-197171600	Active TSS	Right Atrium	heart
4	chr1:197166600-197171600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:197166800-197171400	Active TSS	HSMMtube	muscle
6	chr1:197166800-197171600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:197166800-197171800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:197167200-197171600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:197167200-197171600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:197167200-197171600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:197167200-197171600	Active TSS	Fetal Intestine Large	intestine
12	chr1:197167400-197171600	Active TSS	Fetal Muscle Leg	muscle
13	chr1:197167400-197171800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:197167600-197171600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:197168000-197171600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:197168400-197171400	Active TSS	HSMM	muscle
17	chr1:197168400-197171600	Active TSS	Aorta	Aorta
18	chr1:197168400-197171600	Active TSS	Left Ventricle	heart
19	chr1:197168400-197171600	Active TSS	Ovary	ovary
20	chr1:197168400-197171600	Active TSS	Psoas Muscle	Psoas
21	chr1:197168400-197171600	Active TSS	Right Ventricle	heart
22	chr1:197168600-197171200	Active TSS	Thymus	Thymus
23	chr1:197168600-197171800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:197168800-197171400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:197168800-197171400	Active TSS	Brain Substantia Nigra	brain
26	chr1:197168800-197171800	Active TSS	Stomach Smooth Muscle	stomach
27	chr1:197168800-197172000	Active TSS	NHDF-Ad	bronchial
28	chr1:197169200-197171200	Active TSS	Fetal Stomach	stomach
29	chr1:197169200-197171400	Active TSS	Fetal Brain Male	brain
30	chr1:197169200-197171600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:197169200-197171600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:197169200-197171600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:197169200-197171600	Active TSS	Colon Smooth Muscle	Colon
34	chr1:197169200-197171600	Active TSS	Fetal Muscle Trunk	muscle
35	chr1:197169200-197171800	Active TSS	A549	lung
36	chr1:197169200-197171800	Active TSS	NHLF	lung
37	chr1:197169400-197171200	Active TSS	Brain Hippocampus Middle	brain
38	chr1:197169400-197171200	Active TSS	Fetal Heart	heart
39	chr1:197169400-197171200	Active TSS	Fetal Intestine Small	intestine
40	chr1:197169400-197171200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:197169400-197171400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:197169400-197171400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:197169400-197171400	Active TSS	Osteobl	bone
44	chr1:197169400-197171600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr1:197169400-197171600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:197169400-197171600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr1:197169400-197171600	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:197169400-197171600	Active TSS	Brain Anterior Caudate	brain
49	chr1:197169400-197171600	Active TSS	Brain Cingulate Gyrus	brain
50	chr1:197169400-197171600	Active TSS	Brain Inferior Temporal Lobe	brain

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