Variant report

Variant	rs4951627
Chromosome Location	chr1:212781026-212781027
allele	C/G
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	chr1:212778466-212788906	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:212780095-212783407	Hela-S3	cervix:	n/a	n/a
3	ZBTB7A	chr1:212780993-212781218	K562	blood:	n/a	n/a
4	SMARCB1	chr1:212780081-212783360	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:212778349-212787926	MCF10A-Er-Src	breast:	n/a	n/a
6	NFIC	chr1:212780811-212781411	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:212780956-212787804	HepG2	liver:	n/a	n/a
8	TCF12	chr1:212780561-212781112	ECC-1	luminal epithelium:	n/a	n/a
9	ATF2	chr1:212780451-212781026	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:212780069-212783342	GM19193	blood:	n/a	n/a
11	TCF12	chr1:212781020-212782486	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr1:212780146-212783758	GM18505	blood:	n/a	n/a
13	MAZ	chr1:212780603-212785387	IMR90	lung:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016
14	POLR2A	chr1:212780904-212781107	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:212780146-212787893	GM12878	blood:	n/a	n/a
16	ELK1	chr1:212780956-212781048	GM12878	blood:	n/a	n/a
17	TCF12	chr1:212779886-212782525	A549	lung:	n/a	n/a
18	MAX	chr1:212780813-212782410	H1-hESC	embryonic stem cell:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212781677-212781687 chr1:212781009-212781016
19	POLR2A	chr1:212780928-212781169	GM12891	blood:	n/a	n/a
20	POLR2A	chr1:212779324-212788938	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr1:212780060-212783327	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:212780327-212784859	GM12892	blood:	n/a	n/a
23	MAX	chr1:212780055-212783475	A549	lung:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016
24	CHD1	chr1:212779286-212788865	IMR90	lung:	n/a	chr1:212783477-212783487 chr1:212782811-212782821
25	MXI1	chr1:212781006-212782573	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr1:212780814-212781172	GM12878	blood:	n/a	n/a
27	MAX	chr1:212780864-212783103	A549	lung:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016
28	CHD2	chr1:212780150-212782574	Hela-S3	cervix:	n/a	n/a
29	MAX	chr1:212780090-212783400	K562	blood:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016
30	POLR2A	chr1:212779999-212787934	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:212780134-212783283	GM18526	blood:	n/a	n/a
32	EGR1	chr1:212781024-212781287	K562	blood:	n/a	chr1:212781134-212781144 chr1:212781133-212781146 chr1:212781133-212781146 chr1:212781132-212781147
33	MYC	chr1:212780866-212782338	MCF10A-Er-Src	breast:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212781677-212781687 chr1:212781009-212781016
34	ELF1	chr1:212780090-212783250	GM12878	blood:	n/a	chr1:212781347-212781359
35	POLR2A	chr1:212780869-212783401	GM12891	blood:	n/a	n/a
36	PAX5	chr1:212780146-212781171	GM12878	blood:	n/a	chr1:212780672-212780681
37	CREB1	chr1:212780767-212782590	GM12878	blood:	n/a	n/a
38	HMGN3	chr1:212780584-212783119	K562	blood:	n/a	n/a
39	ZEB1	chr1:212780577-212781076	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:212780609-212782463	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:212780020-212789160	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr1:212780566-212783402	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr1:212780048-212783328	H1-hESC	embryonic stem cell:	n/a	chr1:212780892-212780899 chr1:212780892-212780899 chr1:212782504-212782511 chr1:212781671-212781680 chr1:212782461-212782468 chr1:212782504-212782511 chr1:212780892-212780899 chr1:212782504-212782511 chr1:212781668-212781680 chr1:212782461-212782468 chr1:212782461-212782468 chr1:212780891-212780903 chr1:212782379-212782388 chr1:212782808-212782820
44	RELA	chr1:212780580-212781292	GM15510	blood:	n/a	n/a
45	POLR2A	chr1:212780117-212783304	GM19099	blood:	n/a	n/a
46	FOXM1	chr1:212780524-212781069	GM12878	blood:	n/a	n/a
47	BHLHE40	chr1:212780141-212782566	GM12878	blood:	n/a	n/a
48	RCOR1	chr1:212780998-212782904	Hela-S3	cervix:	n/a	n/a
49	ZKSCAN1	chr1:212780607-212781146	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr1:212780146-212783095	GM12878	blood:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:212780991-212781041	NT2-D1	testis:	n/a
2	chr1:212780991-212781041	Hepatocyte	liver:	n/a
3	chr1:212780991-212781041	NHDF-neo	bronchial:	n/a
4	chr1:212780991-212781041	PrEC	prostate:	n/a
5	chr1:212780991-212781041	HL-60	blood:	n/a
6	chr1:212780991-212781041	GM12892	blood:	n/a
7	chr1:212780991-212781041	HCM	heart:	n/a
8	chr1:212780991-212781041	Caco-2	colon:	n/a
9	chr1:212780991-212781041	MCF10A-Er-Src	breast:	n/a
10	chr1:212780991-212781041	A549	lung:	n/a
11	chr1:212780991-212781041	Jurkat	blood:	n/a
12	chr1:212780991-212781041	HNPCEpiC	eye:	n/a
13	chr1:212780991-212781041	K562	blood:	n/a
14	chr1:212780991-212781041	HRCEpiC	kidney:	n/a
15	chr1:212780991-212781041	AG04449	skin:	fetal
16	chr1:212780991-212781041	SKMC	muscle:	n/a
17	chr1:212780991-212781041	AG09309	skin:	n/a
18	chr1:212780991-212781041	HAEpiC	amniotic membrane:	n/a
19	chr1:212780991-212781041	SK-N-SH_RA	brain:	n/a
20	chr1:212780991-212781041	HIPEpiC	eye:	n/a
21	chr1:212780991-212781041	HEK293	kidney:	embryo
22	chr1:212780991-212781041	IMR90	lung:	fetal
23	chr1:212780991-212781041	AoSMC	blood vessel:	n/a
24	chr1:212780991-212781041	MCF-7	breast:	n/a
25	chr1:212780991-212781041	NB4	blood:	n/a
26	chr1:212780991-212781041	SK-N-SH	brain:	n/a
27	chr1:212780991-212781041	T-47D	breast:	n/a
28	chr1:212780991-212781041	Hela-S3	cervix:	n/a
29	chr1:212780991-212781041	GM12891	blood:	n/a
30	chr1:212780991-212781041	HUVEC	blood vessel:	n/a
31	chr1:212780991-212781041	CMK	blood:	n/a
32	chr1:212780991-212781041	GM19239	blood:	n/a
33	chr1:212780991-212781041	SK-N-MC	brain:	n/a
34	chr1:212780991-212781041	H1-hESC	embryonic stem cell:	embryo
35	chr1:212780991-212781041	HMEC	breast:	n/a
36	chr1:212780991-212781041	PANC-1	pancreas:	n/a
37	chr1:212780991-212781041	LNCaP	prostate:	n/a
38	chr1:212780991-212781041	AG04450	lung:	fetal
39	chr1:212780991-212781041	U87	brain:	n/a
40	chr1:212780991-212781041	PFSK-1	brain:	n/a
41	chr1:212780991-212781041	HEEpiC	esophagus:	n/a
42	chr1:212780991-212781041	ProgFib	skin:	n/a
43	chr1:212780991-212781041	GM06990	blood:	n/a
44	chr1:212780991-212781041	HCF	heart:	n/a
45	chr1:212780991-212781041	GM12878	blood:	n/a
46	chr1:212780991-212781041	SAEC	small airway:	n/a
47	chr1:212780991-212781041	NHBE	bronchial:	n/a
48	chr1:212780991-212781041	AG10803	skin:	n/a
49	chr1:212780991-212781041	BE2_C	brain:	n/a
50	chr1:212780991-212781041	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:212730770..212733133-chr1:212778739..212783577,4	MCF-7	breast:
2	chr1:212588056..212590074-chr1:212779163..212783567,3	K562	blood:
3	chr1:212639121..212641967-chr1:212780550..212783593,4	MCF-7	breast:
4	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
5	chr1:212780213..212784804-chr1:212794528..212800673,7	MCF-7	breast:
6	chr1:212779956..212783547-chr1:212870276..212874584,4	K562	blood:
7	chr1:212780618..212781129-chr3:101405139..101405811,2	Hela-S3	cervix:
8	chr1:212780353..212782606-chr1:212962286..212965026,4	K562	blood:
9	chr1:212729491..212744666-chr1:212778733..212791648,68	K562	blood:
10	chr1:212780968..212782915-chr1:212872894..212874871,2	MCF-7	breast:
11	chr1:212780858..212783878-chr1:212789179..212792370,4	MCF-7	breast:
12	chr1:212780312..212781981-chr1:212842707..212844333,2	K562	blood:
13	chr1:212779956..212785175-chr1:212870276..212874748,7	K562	blood:
14	chr1:212752372..212753937-chr1:212778628..212781608,2	K562	blood:
15	chr1:212641004..212645017-chr1:212780879..212784098,6	K562	blood:
16	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:
17	chr1:212780965..212781640-chr4:6695350..6695980,2	Hela-S3	cervix:
18	chr1:212730682..212733368-chr1:212780704..212783808,5	MCF-7	breast:
19	chr1:212779632..212786722-chr1:212965265..212968763,9	K562	blood:
20	chr1:212604504..212608752-chr1:212780786..212783858,6	K562	blood:
21	chr1:212780951..212783989-chr1:213187661..213190726,3	K562	blood:
22	chr1:212779632..212786722-chr1:212963640..212968604,10	K562	blood:
23	chr1:212780951..212783971-chr1:212784548..212788701,9	MCF-7	breast:

Variant related genes	Relation type
ATF3	TF binding region
ATF3	CpG island
ENSG00000065600	Chromatin interaction
ENSG00000114391	Chromatin interaction
ENSG00000264590	Chromatin interaction
ENSG00000163993	Chromatin interaction
ENSG00000123685	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000162771	Chromatin interaction
ENSG00000235862	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000260805	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000224535	Chromatin interaction
ENSG00000198468	Chromatin interaction
ENSG00000117691	Chromatin interaction
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11119988	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1126526	0.86[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9429888	0.86[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212779400-212781600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
2	chr1:212779400-212781800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:212779600-212781200	Flanking Bivalent TSS/Enh	Hela-S3	cervix
4	chr1:212779600-212784000	Active TSS	Aorta	Aorta
5	chr1:212779800-212781400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
6	chr1:212779800-212781600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:212779800-212781600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
8	chr1:212779800-212781600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
9	chr1:212779800-212781600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
10	chr1:212779800-212781600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:212779800-212781800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:212779800-212783800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr1:212779800-212785000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:212780000-212781200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:212780000-212781200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:212780000-212781400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr1:212780000-212781400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
18	chr1:212780000-212781400	Flanking Bivalent TSS/Enh	A549	lung
19	chr1:212780000-212781600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:212780000-212781600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:212780000-212781600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:212780000-212781600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:212780000-212781600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:212780000-212781600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:212780000-212781600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:212780000-212781600	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr1:212780000-212781800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
28	chr1:212780000-212781800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr1:212780000-212781800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
30	chr1:212780000-212781800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:212780000-212781800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:212780000-212781800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:212780000-212781800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr1:212780000-212781800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr1:212780000-212781800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr1:212780000-212782000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr1:212780000-212782000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr1:212780000-212783000	Active TSS	Placenta Amnion	Placenta Amnion
39	chr1:212780000-212783200	Active TSS	Pancreas	Pancrea
40	chr1:212780200-212781200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr1:212780200-212781200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:212780200-212781200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:212780200-212781400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:212780200-212781400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
45	chr1:212780200-212781400	Flanking Bivalent TSS/Enh	Thymus	Thymus
46	chr1:212780200-212781600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:212780200-212781600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
48	chr1:212780200-212781600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:212780200-212781600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:212780200-212781600	Flanking Bivalent TSS/Enh	Placenta	Placenta

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