Variant report

Variant	rs4427371
Chromosome Location	chr1:226187900-226187901
allele	A/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	NFIC	chr1:226186773-226187907	GM12878	blood:	n/a	n/a
2	MYC	chr1:226186827-226187939	K562	blood:	n/a	chr1:226187820-226187829
3	TBP	chr1:226186303-226188039	Hela-S3	cervix:	n/a	n/a
4	POU2F2	chr1:226187140-226188037	GM12878	blood:	n/a	chr1:226187840-226187850 chr1:226187839-226187851 chr1:226187841-226187852 chr1:226187842-226187849 chr1:226187836-226187857 chr1:226187842-226187850 chr1:226187837-226187855 chr1:226187840-226187850 chr1:226187838-226187853 chr1:226187841-226187850 chr1:226187841-226187851
5	POLR2A	chr1:226186336-226188266	GM12891	blood:	n/a	n/a
6	ZMIZ1	chr1:226186791-226188183	K562	blood:	n/a	n/a
7	POLR2A	chr1:226187164-226188047	GM12891	blood:	n/a	n/a
8	REST	chr1:226186340-226188068	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr1:226186261-226188138	K562	blood:	n/a	n/a
10	NR2F2	chr1:226186724-226188210	K562	blood:	n/a	n/a
11	KAP1	chr1:226186794-226188003	HEK293	kidney:	n/a	chr1:226187604-226187612
12	CREB1	chr1:226186624-226188103	GM12878	blood:	n/a	n/a
13	PML	chr1:226186575-226188264	GM12878	blood:	n/a	chr1:226187604-226187612 chr1:226188020-226188028
14	FOXM1	chr1:226186701-226188043	GM12878	blood:	n/a	n/a
15	JUND	chr1:226186368-226188140	K562	blood:	n/a	n/a
16	POLR2A	chr1:226185983-226188200	K562	blood:	n/a	n/a
17	RELA	chr1:226186641-226188121	GM15510	blood:	n/a	n/a
18	CREB1	chr1:226186638-226188017	K562	blood:	n/a	n/a
19	CREB1	chr1:226186333-226188010	GM12878	blood:	n/a	n/a
20	EP300	chr1:226186831-226188161	GM12878	blood:	n/a	chr1:226187164-226187180
21	MXI1	chr1:226185625-226188105	K562	blood:	n/a	n/a
22	CBX3	chr1:226187084-226187910	K562	blood:	n/a	chr1:226187890-226187901
23	BHLHE40	chr1:226186885-226188184	GM12878	blood:	n/a	n/a
24	RELA	chr1:226186846-226188119	GM18951	blood:	n/a	n/a
25	MAX	chr1:226186220-226187989	K562	blood:	n/a	chr1:226187820-226187829
26	TEAD4	chr1:226186600-226188156	K562	blood:	n/a	n/a
27	POLR2A	chr1:226186765-226188154	GM18505	blood:	n/a	n/a
28	POLR2A	chr1:226186338-226187959	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:226186792-226188160	GM19193	blood:	n/a	n/a
30	ZC3H11A	chr1:226186928-226188187	K562	blood:	n/a	n/a
31	GABPA	chr1:226186863-226187998	K562	blood:	n/a	n/a
32	ATF3	chr1:226186825-226187953	K562	blood:	n/a	chr1:226187071-226187091
33	POLR2A	chr1:226186566-226188048	H1-hESC	embryonic stem cell:	n/a	n/a
34	PML	chr1:226186153-226188306	K562	blood:	n/a	chr1:226187604-226187612 chr1:226188020-226188028
35	JUN	chr1:226186864-226188174	K562	blood:	n/a	n/a
36	SP1	chr1:226186824-226188245	K562	blood:	n/a	chr1:226187128-226187137 chr1:226187103-226187112 chr1:226187127-226187141 chr1:226187133-226187142 chr1:226187103-226187113 chr1:226187102-226187114 chr1:226187126-226187138 chr1:226187103-226187117 chr1:226187102-226187114 chr1:226187265-226187274 chr1:226187131-226187142 chr1:226187126-226187138 chr1:226187104-226187113 chr1:226187143-226187152 chr1:226187180-226187194 chr1:226187103-226187113 chr1:226187183-226187194 chr1:226187103-226187112 chr1:226187184-226187193
37	MAZ	chr1:226186348-226188003	K562	blood:	n/a	chr1:226187820-226187829
38	POLR2A	chr1:226186793-226188169	GM18526	blood:	n/a	n/a
39	POLR2A	chr1:226186635-226188118	K562	blood:	n/a	n/a
40	POLR2A	chr1:226186773-226188148	GM15510	blood:	n/a	n/a
41	RELA	chr1:226186823-226188118	GM10847	blood:	n/a	n/a
42	PAX5	chr1:226186842-226187972	GM12878	blood:	n/a	n/a
43	GTF2F1	chr1:226186876-226188001	K562	blood:	n/a	n/a
44	POLR2A	chr1:226186798-226188111	GM12878	blood:	n/a	n/a
45	EP300	chr1:226186812-226188161	GM12878	blood:	n/a	chr1:226187164-226187180
46	POU2F2	chr1:226186694-226188192	GM12878	blood:	n/a	chr1:226187840-226187850 chr1:226187839-226187851 chr1:226187841-226187852 chr1:226187842-226187849 chr1:226187836-226187857 chr1:226187842-226187850 chr1:226187837-226187855 chr1:226187840-226187850 chr1:226187838-226187853 chr1:226187841-226187850 chr1:226187841-226187851
47	TBL1XR1	chr1:226186846-226188120	GM12878	blood:	n/a	n/a
48	STAT5A	chr1:226186598-226187949	GM12878	blood:	n/a	chr1:226187129-226187141 chr1:226187128-226187140 chr1:226186616-226186627
49	POLR2A	chr1:226186172-226188180	K562	blood:	n/a	n/a
50	GATA1	chr1:226186736-226189037	PBDE	blood:	n/a	chr1:226187217-226187224 chr1:226187214-226187226 chr1:226187206-226187223 chr1:226187215-226187225 chr1:226187215-226187224

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226187876-226187926	AG09319	gingival:	n/a
2	chr1:226187852-226187902	GM19239	blood:	n/a
3	chr1:226187876-226187926	GM12878	blood:	n/a
4	chr1:226187876-226187926	HL-60	blood:	n/a
5	chr1:226187876-226187926	ProgFib	skin:	n/a
6	chr1:226187852-226187902	HUVEC	blood vessel:	n/a
7	chr1:226187876-226187926	HCPEpiC	choroid plexus:	n/a
8	chr1:226187852-226187902	ovcar-3	ovarian:	n/a
9	chr1:226187852-226187902	K562	blood:	n/a
10	chr1:226187876-226187926	GM12892	blood:	n/a
11	chr1:226187852-226187902	HCF	heart:	n/a
12	chr1:226187852-226187902	AG09309	skin:	n/a
13	chr1:226187876-226187926	SK-N-MC	brain:	n/a
14	chr1:226187852-226187902	MCF10A-Er-Src	breast:	n/a
15	chr1:226187852-226187902	SK-N-SH_RA	brain:	n/a
16	chr1:226187876-226187926	K562	blood:	n/a
17	chr1:226187852-226187902	BE2_C	brain:	n/a
18	chr1:226187876-226187926	BJ	skin:	n/a
19	chr1:226187852-226187902	AG09319	gingival:	n/a
20	chr1:226187876-226187926	AG09309	skin:	n/a
21	chr1:226187852-226187902	NT2-D1	testis:	n/a
22	chr1:226187876-226187926	H1-hESC	embryonic stem cell:	embryo
23	chr1:226187876-226187926	HUVEC	blood vessel:	n/a
24	chr1:226187852-226187902	HMEC	breast:	n/a
25	chr1:226187852-226187902	SKMC	muscle:	n/a
26	chr1:226187876-226187926	HIPEpiC	eye:	n/a
27	chr1:226187876-226187926	HRCEpiC	kidney:	n/a
28	chr1:226187876-226187926	T-47D	breast:	n/a
29	chr1:226187852-226187902	PrEC	prostate:	n/a
30	chr1:226187876-226187926	PANC-1	pancreas:	n/a
31	chr1:226187852-226187902	AG04449	skin:	fetal
32	chr1:226187852-226187902	PFSK-1	brain:	n/a
33	chr1:226187876-226187926	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:226187852-226187902	NH-A	brain:	n/a
35	chr1:226187852-226187902	HCM	heart:	n/a
36	chr1:226187852-226187902	PANC-1	pancreas:	n/a
37	chr1:226187852-226187902	ProgFib	skin:	n/a
38	chr1:226187876-226187926	GM19239	blood:	n/a
39	chr1:226187852-226187902	LNCaP	prostate:	n/a
40	chr1:226187876-226187926	Caco-2	colon:	n/a
41	chr1:226187876-226187926	LNCaP	prostate:	n/a
42	chr1:226187852-226187902	HEK293	kidney:	embryo
43	chr1:226187852-226187902	T-47D	breast:	n/a
44	chr1:226187852-226187902	HRCEpiC	kidney:	n/a
45	chr1:226187852-226187902	HNPCEpiC	eye:	n/a
46	chr1:226187876-226187926	NT2-D1	testis:	n/a
47	chr1:226187852-226187902	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:226187876-226187926	SAEC	small airway:	n/a
49	chr1:226187876-226187926	HCT-116	colon:	n/a
50	chr1:226187852-226187902	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226187222..226188772-chr1:226264191..226266686,2	K562	blood:
2	chr1:225964273..225967291-chr1:226184778..226188048,4	K562	blood:
3	chr1:225614620..225617599-chr1:226187708..226190219,2	K562	blood:
4	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
5	chr1:226187874..226190820-chr1:226213394..226216312,2	K562	blood:
6	chr1:226184976..226187995-chr1:226271007..226274594,3	K562	blood:
7	chr1:226110464..226115809-chr1:226185735..226190763,7	K562	blood:
8	chr1:226067837..226071624-chr1:226184531..226189088,6	K562	blood:
9	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
10	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
11	chr1:226119019..226120944-chr1:226187286..226188826,2	K562	blood:
12	chr1:226187349..226189522-chr1:226208605..226211580,2	K562	blood:
13	chr1:226147735..226150048-chr1:226187163..226189644,2	K562	blood:
14	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:
15	chr1:226187840..226190663-chr1:226296821..226299236,2	MCF-7	breast:
16	chr1:226108702..226117785-chr1:226183554..226190529,14	K562	blood:
17	chr1:225614459..225616811-chr1:226187382..226190190,2	K562	blood:

Variant related genes	Relation type
SDE2	TF binding region
SDE2	CpG island
ENSG00000196187	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000143815	Chromatin interaction
ENSG00000225518	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12726662	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12735124	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12741523	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16845453	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17514975	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34235986	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34897537	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35065132	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336028	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36094219	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3748813	0.92[ASN][1000 genomes]
rs6698966	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71646760	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71646761	0.97[EUR][1000 genomes]
rs71646762	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71646763	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226185600-226188000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:226185600-226188200	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:226185800-226188000	Active TSS	Right Atrium	heart
4	chr1:226185800-226188200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:226186000-226188000	Active TSS	Aorta	Aorta
6	chr1:226186000-226188200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:226186000-226188200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:226186200-226188000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:226186400-226188000	Active TSS	Fetal Brain Female	brain
10	chr1:226186400-226188000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:226186600-226188000	Active TSS	Fetal Brain Male	brain
12	chr1:226187400-226188000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:226187400-226188000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:226187400-226188000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr1:226187400-226188000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:226187400-226188000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:226187400-226188000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:226187400-226188000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:226187400-226188000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:226187400-226188000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:226187400-226188000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:226187400-226188000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr1:226187400-226188000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr1:226187400-226188000	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr1:226187400-226188000	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr1:226187400-226188000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr1:226187400-226188000	Flanking Active TSS	Stomach Mucosa	stomach
28	chr1:226187400-226188000	Flanking Active TSS	A549	lung
29	chr1:226187400-226188000	Flanking Active TSS	HUVEC	blood vessel
30	chr1:226187400-226188000	Flanking Active TSS	NHEK	skin
31	chr1:226187400-226188200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr1:226187400-226188200	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr1:226187400-226188200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr1:226187400-226188200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:226187400-226188200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:226187400-226188200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr1:226187400-226188200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:226187400-226188200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:226187400-226188200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:226187400-226188200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr1:226187400-226188200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:226187400-226188200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr1:226187400-226188200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:226187400-226188200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:226187400-226188200	Flanking Active TSS	Dnd41	blood
46	chr1:226187400-226188400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr1:226187400-226188400	Flanking Active TSS	Fetal Thymus	thymus
48	chr1:226187400-226188800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:226187400-226188800	Flanking Active TSS	Thymus	Thymus
50	chr1:226187400-226189000	Flanking Active TSS	GM12878-XiMat	blood

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