Variant report

Variant	rs35932524
Chromosome Location	chr1:222638446-222638447
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	CREB1	chr1:222638115-222639359	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr1:222638241-222638494	MCF10A-Er-Src	breast:	n/a	n/a
3	USF1	chr1:222638022-222638501	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr1:222638321-222639403	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr1:222638103-222638648	A549	lung:	n/a	n/a
6	TCF12	chr1:222638182-222638461	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr1:222638127-222638457	HepG2	liver:	n/a	n/a
8	GTF2F1	chr1:222638167-222639318	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr1:222638087-222639481	H1-hESC	embryonic stem cell:	n/a	chr1:222638833-222638842 chr1:222638484-222638492 chr1:222638968-222638977
10	FOSL2	chr1:222638198-222638486	HepG2	liver:	n/a	n/a
11	TCF12	chr1:222638195-222639396	ECC-1	luminal epithelium:	n/a	chr1:222638618-222638628
12	YY1	chr1:222638184-222638548	A549	lung:	n/a	n/a
13	TBP	chr1:222637944-222639415	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB33	chr1:222638074-222638645	A549	lung:	n/a	n/a
15	TBL1XR1	chr1:222637962-222639368	K562	blood:	n/a	n/a
16	TCF12	chr1:222637944-222639415	A549	lung:	n/a	chr1:222638618-222638628
17	YY1	chr1:222638218-222638537	GM12892	blood:	n/a	n/a
18	YY1	chr1:222638223-222638489	GM12892	blood:	n/a	n/a
19	NR2F2	chr1:222637969-222639449	K562	blood:	n/a	n/a
20	EP300	chr1:222638249-222639618	HepG2	liver:	n/a	chr1:222638841-222638857 chr1:222638751-222638767 chr1:222638845-222638854
21	NFIC	chr1:222638105-222638510	HepG2	liver:	n/a	n/a
22	MYC	chr1:222638121-222639718	K562	blood:	n/a	chr1:222638833-222638842 chr1:222638484-222638492 chr1:222638968-222638977
23	HMGN3	chr1:222638440-222639119	K562	blood:	n/a	n/a
24	ZNF143	chr1:222638158-222639122	Hela-S3	cervix:	n/a	n/a
25	ETS1	chr1:222638078-222639200	A549	lung:	n/a	chr1:222638843-222638854
26	CBX3	chr1:222638163-222638567	K562	blood:	n/a	n/a
27	MBD4	chr1:222638163-222639156	HepG2	liver:	n/a	n/a
28	MAX	chr1:222638051-222639453	HepG2	liver:	n/a	chr1:222638833-222638842 chr1:222638484-222638492 chr1:222638968-222638977
29	GTF2F1	chr1:222638122-222639268	K562	blood:	n/a	n/a
30	CEBPB	chr1:222638211-222638464	GM12878	blood:	n/a	n/a
31	ZMIZ1	chr1:222638174-222639372	K562	blood:	n/a	n/a
32	KAP1	chr1:222638007-222639263	U2OS	brain:	n/a	n/a
33	UBTF	chr1:222638001-222639255	K562	blood:	n/a	n/a
34	MYC	chr1:222638012-222639612	A549	lung:	n/a	chr1:222638833-222638842 chr1:222638484-222638492 chr1:222638968-222638977
35	RCOR1	chr1:222638089-222639130	HepG2	liver:	n/a	n/a
36	MAX	chr1:222638203-222639387	GM12878	blood:	n/a	chr1:222638833-222638842 chr1:222638484-222638492 chr1:222638968-222638977
37	NFIC	chr1:222638121-222638573	ECC-1	luminal epithelium:	n/a	n/a
38	RCOR1	chr1:222638266-222639302	GM12878	blood:	n/a	n/a
39	BRCA1	chr1:222638279-222639274	Hela-S3	cervix:	n/a	n/a
40	HSF1	chr1:222638188-222638529	HepG2	liver:	n/a	n/a
41	USF1	chr1:222638062-222638546	A549	lung:	n/a	n/a
42	POLR2A	chr1:222638178-222638486	PANC-1	pancreas:	n/a	n/a
43	USF1	chr1:222637949-222639298	HCT-116	colon:	n/a	chr1:222638966-222638977 chr1:222638752-222638768
44	GATA3	chr1:222638044-222639309	A549	lung:	n/a	chr1:222638868-222638877
45	HCFC1	chr1:222638095-222639380	K562	blood:	n/a	n/a
46	HDAC2	chr1:222638169-222639234	MCF-7	breast:	n/a	n/a
47	RPC155	chr1:222638068-222638967	K562	blood:	n/a	n/a
48	MAX	chr1:222638197-222639427	MCF-7	breast:	n/a	chr1:222638833-222638842 chr1:222638484-222638492 chr1:222638968-222638977
49	USF1	chr1:222638182-222638559	ECC-1	luminal epithelium:	n/a	n/a
50	ZNF217	chr1:222638293-222638553	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:222637243..222641095-chr1:222790300..222793217,7	K562	blood:
2	chr1:222637338..222639462-chr1:222805621..222807759,2	K562	blood:
3	chr1:222638435..222639426-chr1:222912183..222912771,2	K562	blood:
4	chr1:222628658..222629520-chr1:222638274..222638881,2	K562	blood:
5	chr1:222637061..222639372-chr1:222820867..222822400,2	K562	blood:
6	chr1:222638150..222640469-chr1:224134814..224136362,2	K562	blood:
7	chr1:222638330..222639395-chr1:222807393..222809400,8	K562	blood:
8	chr1:222637243..222641095-chr1:222790300..222795670,9	K562	blood:
9	chr1:222638095..222639005-chr1:223254755..223255897,3	K562	blood:
10	chr1:222638231..222639238-chr1:222807529..222808368,7	MCF-7	breast:
11	chr1:222637935..222640112-chr1:222806335..222808096,3	MCF-7	breast:
12	chr1:222637442..222640298-chr1:222891368..222892871,2	K562	blood:
13	chr1:222628680..222632014-chr1:222636093..222640238,5	K562	blood:
14	chr1:222637179..222640371-chr1:222815535..222818347,5	K562	blood:
15	chr1:222634356..222637022-chr1:222637357..222638963,2	MCF-7	breast:
16	chr1:222637005..222640919-chr1:222814856..222820452,12	K562	blood:
17	chr1:222636098..222640293-chr1:222883818..222887460,7	K562	blood:
18	chr1:222637686..222640207-chr1:222815962..222817718,2	MCF-7	breast:
19	chr1:222632394..222635233-chr1:222636856..222640196,3	K562	blood:
20	chr1:222638388..222640436-chr1:222991822..222993903,2	K562	blood:
21	chr1:222638408..222639220-chr1:223254699..223255414,2	MCF-7	breast:
22	chr1:222638446..222639286-chr1:223296954..223297729,2	K562	blood:

Variant related genes	Relation type
CICP13	TF binding region
ENSG00000229399	Chromatin interaction
ENSG00000162819	Chromatin interaction
ENSG00000186063	Chromatin interaction
ENSG00000233771	Chromatin interaction
ENSG00000154305	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17463531	1.00[ASN][1000 genomes]
rs17509774	1.00[ASN][1000 genomes]
rs3002131	1.00[ASN][1000 genomes]
rs34457750	1.00[ASN][1000 genomes]
rs34747518	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35458674	1.00[ASN][1000 genomes]
rs35583094	0.96[EUR][1000 genomes]
rs3895963	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4400619	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222631800-222638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:222634000-222638600	Weak transcription	Esophagus	oesophagus
3	chr1:222637800-222638600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:222637800-222639400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:222638000-222638600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:222638000-222638600	Flanking Active TSS	K562	blood
7	chr1:222638000-222638600	Flanking Active TSS	NHDF-Ad	bronchial
8	chr1:222638000-222638800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:222638000-222638800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr1:222638000-222638800	Flanking Active TSS	HUVEC	blood vessel
11	chr1:222638000-222639000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:222638000-222639200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:222638000-222639200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:222638000-222639200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:222638000-222639400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:222638000-222639400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:222638000-222639400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:222638000-222639400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:222638000-222639400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:222638000-222639400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:222638000-222639400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:222638000-222639400	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:222638000-222639400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:222638000-222639400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:222638000-222639400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:222638000-222639400	Active TSS	Brain Angular Gyrus	brain
27	chr1:222638000-222639400	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:222638000-222639400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:222638000-222639400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr1:222638000-222639400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:222638000-222639400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:222638000-222639600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:222638000-222639600	Active TSS	A549	lung
34	chr1:222638200-222638600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:222638200-222638600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:222638200-222638600	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr1:222638200-222638600	Enhancers	Lung	lung
38	chr1:222638200-222638800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:222638200-222638800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:222638200-222638800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr1:222638200-222638800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr1:222638200-222638800	Flanking Active TSS	NH-A	brain
43	chr1:222638200-222638800	Flanking Active TSS	Osteobl	bone
44	chr1:222638200-222639000	Active TSS	NHEK	skin
45	chr1:222638200-222639200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:222638200-222639200	Active TSS	Fetal Kidney	kidney
47	chr1:222638200-222639200	Active TSS	NHLF	lung
48	chr1:222638200-222639400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:222638200-222639400	Active TSS	Primary T cells from cord blood	blood
50	chr1:222638200-222639400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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