Variant report

Variant	rs1340868
Chromosome Location	chr1:225706943-225706944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:225706864-225707202	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr1:225706794-225707234	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr1:225706895-225707217	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr1:225706746-225707472	A549	lung:	n/a	n/a
5	TEAD4	chr1:225706856-225707256	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr1:225706859-225707249	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr1:225706829-225707266	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr1:225706755-225707465	A549	lung:	n/a	n/a
9	EP300	chr1:225706866-225707238	H1-hESC	embryonic stem cell:	n/a	n/a
10	NR3C1	chr1:225706868-225707242	A549	lung:	n/a	n/a
11	EP300	chr1:225706884-225707589	A549	lung:	n/a	chr1:225707279-225707293 chr1:225707272-225707286 chr1:225707273-225707287
12	YY1	chr1:225706875-225707290	H1-hESC	embryonic stem cell:	n/a	n/a
13	NANOG	chr1:225706883-225707096	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr1:225706842-225707207	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr1:225706932-225707255	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:225706865-225707080	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP1	chr1:225706787-225707283	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP1	chr1:225706787-225707313	H1-hESC	embryonic stem cell:	n/a	n/a
19	EGR1	chr1:225706742-225707191	H1-hESC	embryonic stem cell:	n/a	n/a
20	HDAC2	chr1:225706858-225707210	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr1:225706844-225707334	H1-hESC	embryonic stem cell:	n/a	n/a
22	SP4	chr1:225706889-225707157	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr1:225706917-225707186	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr1:225706842-225707317	A549	lung:	n/a	n/a
25	TAF1	chr1:225706937-225707195	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF12	chr1:225706833-225707131	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225704786..225708350-chr1:225708492..225710197,3	K562	blood:

No data

Variant related genes	Relation type
ENAH	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11801322	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12027872	1.00[AFR][1000 genomes]
rs12039453	1.00[TSI][hapmap]
rs1537877	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537878	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845078	1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500089	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17500562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500814	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501138	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501208	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501775	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17501956	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502068	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17502823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17502858	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17502961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17503792	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17558869	1.00[CHD][hapmap]
rs17559267	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17559587	1.00[CEU][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560215	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561781	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17562010	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17562052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17568665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17569049	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17569145	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17569194	1.00[ASN][1000 genomes]
rs1832229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876086	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617210	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3947140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687755	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73125707	0.90[ASN][1000 genomes]
rs954615	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv4720	chr1:225673218-225718009	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225688800-225711400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:225689200-225721000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:225695600-225721200	Weak transcription	Fetal Kidney	kidney
4	chr1:225697200-225711200	Weak transcription	Fetal Heart	heart
5	chr1:225697200-225716600	Weak transcription	Right Atrium	heart
6	chr1:225697400-225715400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:225697400-225722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:225697800-225707800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:225697800-225708600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:225698600-225721000	Weak transcription	Small Intestine	intestine
11	chr1:225700000-225726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:225700000-225726400	Weak transcription	HMEC	breast
13	chr1:225700400-225708400	Weak transcription	Dnd41	blood
14	chr1:225700800-225707000	Weak transcription	Liver	Liver
15	chr1:225701200-225707800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:225701400-225727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:225701400-225744400	Weak transcription	HUVEC	blood vessel
18	chr1:225701400-225747000	Weak transcription	Hela-S3	cervix
19	chr1:225701800-225710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:225703600-225707600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:225703800-225707400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:225703800-225707400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:225703800-225707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:225704000-225707600	Strong transcription	Fetal Lung	lung
25	chr1:225704000-225707600	Strong transcription	Osteobl	bone
26	chr1:225704200-225707200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:225704200-225721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:225704400-225707600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:225704400-225711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:225704600-225707200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:225704600-225707400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:225704800-225707200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:225704800-225707400	Strong transcription	Fetal Intestine Small	intestine
34	chr1:225705000-225707400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:225705000-225707600	Strong transcription	NHDF-Ad	bronchial
36	chr1:225705200-225707400	Strong transcription	NH-A	brain
37	chr1:225705600-225707000	Weak transcription	Brain Angular Gyrus	brain
38	chr1:225705600-225707200	Weak transcription	Placenta	Placenta
39	chr1:225705600-225707200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:225705600-225707600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:225705600-225708600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:225705600-225710200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:225705600-225711000	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:225705600-225714000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:225705600-225714600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:225705600-225715800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:225705600-225717600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:225705600-225747400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:225705800-225707000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:225705800-225707000	Weak transcription	Fetal Muscle Leg	muscle

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