Variant report

Variant	rs7515228
Chromosome Location	chr1:150849859-150849860
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:150847697-150850134	SK-N-SH	brain:	n/a	n/a
2	ZNF384	chr1:150849182-150849950	K562	blood:	n/a	n/a
3	TEAD4	chr1:150848931-150850019	K562	blood:	n/a	n/a
4	NR2F2	chr1:150848371-150850122	MCF-7	breast:	n/a	n/a
5	GATA1	chr1:150849027-150849997	PBDE	blood:	n/a	n/a
6	KAP1	chr1:150849192-150849875	U2OS	brain:	n/a	n/a
7	KAP1	chr1:150849161-150850098	HEK293	kidney:	n/a	n/a
8	RPC155	chr1:150849218-150849910	K562	blood:	n/a	n/a
9	GTF3C2	chr1:150849336-150850044	Hela-S3	cervix:	n/a	n/a
10	IRF1	chr1:150849794-150849928	K562	blood:	n/a	n/a
11	RPC155	chr1:150849247-150849950	Hela-S3	cervix:	n/a	n/a
12	RCOR1	chr1:150848529-150850066	IMR90	lung:	n/a	n/a
13	TCF12	chr1:150848407-150850083	A549	lung:	n/a	chr1:150849981-150849988 chr1:150848802-150848812

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150549744..150554023-chr1:150847608..150851573,5	K562	blood:
2	chr1:150848716..150851402-chr1:150897221..150900291,3	MCF-7	breast:
3	chr1:150847931..150851587-chr1:150853004..150856091,6	K562	blood:
4	chr1:150849390..150851277-chr1:150877417..150879109,2	MCF-7	breast:
5	chr1:150846965..150851829-chr1:150851958..150856513,6	MCF-7	breast:
6	chr1:150549206..150551464-chr1:150847559..150850045,2	K562	blood:
7	chr1:150847731..150849909-chr1:150942826..150945486,2	K562	blood:
8	chr1:150847356..150848927-chr1:150849575..150851202,2	K562	blood:
9	chr1:150847391..150850807-chr1:150896212..150900555,5	MCF-7	breast:
10	chr1:150847696..150850504-chr1:150946094..150948149,2	K562	blood:
11	chr1:150849097..150850809-chr1:150979255..150981896,2	MCF-7	breast:
12	chr1:150846616..150850276-chr1:150942456..150948926,7	MCF-7	breast:
13	chr1:150336081..150337653-chr1:150849061..150850708,2	K562	blood:
14	chr1:150846958..150850554-chr1:150897225..150899118,3	K562	blood:
15	chr1:150848386..150850942-chr1:150853921..150858032,4	K562	blood:

No data

Variant related genes	Relation type
ARNT	TF binding region
ENSG00000231073	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000212512	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000224800	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10788796	1.00[CEU][hapmap]
rs11204728	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1415146	1.00[CEU][hapmap]
rs1415147	1.00[AMR][1000 genomes]
rs267727	1.00[CEU][hapmap]
rs267728	1.00[CEU][hapmap]
rs6587519	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6587521	1.00[AMR][1000 genomes]
rs6587522	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6587534	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6688430	1.00[CEU][hapmap]
rs7517945	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518440	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7518546	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7533914	1.00[CEU][hapmap]
rs7536645	1.00[CEU][hapmap]

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	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv2810	chr1:150835173-150879869	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1008496	chr1:150845827-150970656	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150846600-150850000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:150846600-150850000	Active TSS	Aorta	Aorta
3	chr1:150846600-150850000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:150847000-150850200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:150847400-150850000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:150847400-150850000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:150847400-150850000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:150847400-150850000	Active TSS	Brain Anterior Caudate	brain
9	chr1:150847400-150850000	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:150847400-150850000	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr1:150847400-150850000	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:150847400-150850200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:150847400-150850200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:150847600-150850000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:150847600-150850000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:150847600-150850000	Active TSS	GM12878-XiMat	blood
17	chr1:150847600-150850000	Active TSS	HMEC	breast
18	chr1:150847600-150850200	Active TSS	A549	lung
19	chr1:150847800-150850000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:150847800-150850000	Active TSS	Fetal Kidney	kidney
21	chr1:150848000-150850000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:150848000-150850000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:150848000-150850000	Active TSS	Fetal Intestine Large	intestine
24	chr1:150848200-150850000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:150848200-150850000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:150848200-150850000	Active TSS	Brain Substantia Nigra	brain
27	chr1:150848200-150850000	Active TSS	Duodenum Mucosa	Duodenum
28	chr1:150848400-150850000	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr1:150848400-150850000	Active TSS	Adipose Nuclei	Adipose
30	chr1:150848400-150850000	Active TSS	NHEK	skin
31	chr1:150848600-150850000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:150848800-150850000	Active TSS	Primary hematopoietic stem cells	blood
33	chr1:150849000-150850000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:150849200-150850000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:150849200-150852800	Weak transcription	NHLF	lung
36	chr1:150849400-150850000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr1:150849400-150850000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr1:150849400-150850000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:150849400-150850000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:150849400-150850000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:150849600-150850000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr1:150849600-150850000	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr1:150849600-150850000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:150849600-150850000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:150849600-150850000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:150849600-150850000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:150849600-150850000	Flanking Active TSS	Placenta	Placenta
48	chr1:150849600-150850000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:150849600-150850000	Enhancers	Stomach Mucosa	stomach
50	chr1:150849600-150850000	Flanking Active TSS	Hela-S3	cervix

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