Variant report

Variant	rs1196356
Chromosome Location	chr1:151588279-151588280
allele	A/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	JUND	chr1:151588216-151588810	T-47D	breast:	n/a	chr1:151588295-151588307
2	REST	chr1:151588220-151588603	MCF-7	breast:	n/a	chr1:151588382-151588391
3	REST	chr1:151588238-151588525	Hela-S3	cervix:	n/a	chr1:151588382-151588391
4	REST	chr1:151588184-151588625	PANC-1	pancreas:	n/a	chr1:151588382-151588391
5	EP300	chr1:151588277-151588926	T-47D	breast:	n/a	n/a
6	GATA3	chr1:151588273-151588794	T-47D	breast:	n/a	n/a
7	REST	chr1:151588161-151588691	MCF-7	breast:	n/a	chr1:151588382-151588391
8	REST	chr1:151588259-151588520	H1-hESC	embryonic stem cell:	n/a	chr1:151588382-151588391
9	REST	chr1:151588249-151588499	K562	blood:	n/a	chr1:151588382-151588391
10	REST	chr1:151588249-151588574	SK-N-SH	brain:	n/a	chr1:151588382-151588391
11	REST	chr1:151588220-151588572	Hela-S3	cervix:	n/a	chr1:151588382-151588391
12	REST	chr1:151588118-151588630	HL-60	blood:	n/a	chr1:151588382-151588391
13	REST	chr1:151588256-151588547	SK-N-SH	brain:	n/a	chr1:151588382-151588391
14	REST	chr1:151588259-151588542	H1-hESC	embryonic stem cell:	n/a	chr1:151588382-151588391

No.	Distal block	Cell Line	Cell type
1	chr1:151580809..151584127-chr1:151586626..151590699,5	MCF-7	breast:
2	chr1:151585984..151590986-chr1:151591499..151594499,5	K562	blood:
3	chr1:151584561..151586532-chr1:151587199..151588882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250734	TF binding region
ENSG00000250734	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11204853	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11204865	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1196344	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1196346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196347	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196355	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1196453	1.00[CEU][hapmap]
rs1196455	1.00[CEU][hapmap]
rs1196460	0.85[ASN][1000 genomes]
rs1196461	0.85[ASN][1000 genomes]
rs1196463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1196470	0.81[JPT][hapmap]
rs12031503	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs12040549	1.00[CEU][hapmap]
rs12066022	0.87[ASN][1000 genomes]
rs1308135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1308136	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1308142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1308149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1308151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1308153	0.94[JPT][hapmap]
rs1308155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1308156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1521179	1.00[CEU][hapmap]
rs1539493	1.00[CEU][hapmap]
rs1625039	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16833248	1.00[CEU][hapmap]
rs16833263	1.00[CEU][hapmap]
rs16833274	1.00[CEU][hapmap]
rs1781409	0.87[JPT][hapmap]
rs1781413	1.00[CEU][hapmap]
rs1781417	1.00[CEU][hapmap]
rs1781432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1781435	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2488486	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2489893	0.84[ASN][1000 genomes]
rs2495395	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2997072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3790505	0.90[CHB][hapmap]
rs3790513	1.00[CEU][hapmap]
rs3811413	1.00[CEU][hapmap]
rs4147451	1.00[CEU][hapmap]
rs4354539	1.00[CEU][hapmap]
rs4845778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151584600-151589600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:151585600-151588400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:151586000-151589600	Enhancers	NHEK	skin
4	chr1:151586200-151591000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:151586200-151591600	Weak transcription	Gastric	stomach
6	chr1:151586200-151591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:151586200-151593200	Enhancers	HepG2	liver
8	chr1:151586400-151588400	Weak transcription	Thymus	Thymus
9	chr1:151586400-151588400	Weak transcription	HSMMtube	muscle
10	chr1:151586400-151588400	Weak transcription	Osteobl	bone
11	chr1:151586400-151588600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:151586400-151588600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:151586400-151588800	Weak transcription	HSMM	muscle
14	chr1:151586400-151589000	Weak transcription	Small Intestine	intestine
15	chr1:151586400-151589600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:151586400-151589600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:151586400-151589600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:151586400-151590000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:151586400-151590000	Weak transcription	Stomach Mucosa	stomach
20	chr1:151586400-151590200	Weak transcription	Fetal Intestine Small	intestine
21	chr1:151586400-151591400	Weak transcription	Placenta	Placenta
22	chr1:151586400-151591800	Weak transcription	Brain Substantia Nigra	brain
23	chr1:151586400-151592000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:151586400-151592200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:151586400-151592200	Weak transcription	Fetal Stomach	stomach
26	chr1:151586400-151592200	Weak transcription	NHDF-Ad	bronchial
27	chr1:151586400-151592400	Weak transcription	Lung	lung
28	chr1:151586400-151593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:151586400-151594200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:151586400-151600600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:151586400-151610200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:151586400-151610400	Weak transcription	Left Ventricle	heart
33	chr1:151586400-151611400	Weak transcription	Esophagus	oesophagus
34	chr1:151586400-151622200	Weak transcription	Fetal Thymus	thymus
35	chr1:151586400-151626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:151586600-151588400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:151586600-151589000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:151586600-151589600	Genic enhancers	Dnd41	blood
39	chr1:151586600-151590000	Weak transcription	Liver	Liver
40	chr1:151586600-151591800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:151586600-151592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:151586600-151592200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:151586600-151592200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:151586600-151603000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:151586600-151605600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:151586800-151588600	Enhancers	Fetal Brain Female	brain
47	chr1:151586800-151589400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:151586800-151589600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:151586800-151590600	Weak transcription	Fetal Kidney	kidney
50	chr1:151586800-151590800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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