Variant report

Variant	rs1194591
Chromosome Location	chr1:154321072-154321073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154311610..154313113-chr1:154320635..154323090,2	MCF-7	breast:
2	chr1:154320660..154321215-chr1:154378877..154379469,2	K562	blood:
3	chr1:154320515..154323145-chr1:154323844..154326958,4	K562	blood:
4	chr1:154299930..154302325-chr1:154319908..154321562,2	MCF-7	breast:
5	chr1:154241953..154243786-chr1:154320035..154322316,2	MCF-7	breast:
6	chr1:154321023..154321645-chr1:154450919..154451765,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228013	Chromatin interaction
ENSG00000143515	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs11265630	1.00[EUR][1000 genomes]
rs1194594	1.00[EUR][1000 genomes]
rs1194597	1.00[EUR][1000 genomes]
rs1194601	1.00[EUR][1000 genomes]
rs1194605	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1205590	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1209264	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1308049	0.91[AMR][1000 genomes]
rs16835909	1.00[EUR][1000 genomes]
rs1685625	1.00[EUR][1000 genomes]
rs1685626	1.00[EUR][1000 genomes]
rs1685633	0.82[ASW][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1817688	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2340487	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2481065	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2500222	1.00[EUR][1000 genomes]
rs2633434	1.00[EUR][1000 genomes]
rs4078519	1.00[EUR][1000 genomes]
rs4240873	1.00[EUR][1000 genomes]
rs4393148	1.00[EUR][1000 genomes]
rs4406621	1.00[EUR][1000 genomes]
rs4520411	1.00[EUR][1000 genomes]
rs4845369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845632	1.00[EUR][1000 genomes]
rs4845646	1.00[EUR][1000 genomes]
rs55649582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650526	1.00[EUR][1000 genomes]
rs55664806	1.00[EUR][1000 genomes]
rs55857358	1.00[EUR][1000 genomes]
rs56752149	1.00[EUR][1000 genomes]
rs56760430	1.00[EUR][1000 genomes]
rs59310765	1.00[EUR][1000 genomes]
rs59651124	1.00[EUR][1000 genomes]
rs60506384	1.00[EUR][1000 genomes]
rs60743909	1.00[EUR][1000 genomes]
rs6427694	1.00[EUR][1000 genomes]
rs6661261	0.88[AFR][1000 genomes]
rs6666943	1.00[EUR][1000 genomes]
rs6678164	1.00[EUR][1000 genomes]
rs6683078	1.00[EUR][1000 genomes]
rs6684225	1.00[EUR][1000 genomes]
rs6685108	1.00[EUR][1000 genomes]
rs715737	1.00[EUR][1000 genomes]
rs7515974	1.00[EUR][1000 genomes]
rs7527520	1.00[EUR][1000 genomes]
rs7530737	1.00[EUR][1000 genomes]
rs7537595	1.00[EUR][1000 genomes]
rs7556118	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9659545	1.00[EUR][1000 genomes]
rs9804125	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154302200-154322400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:154302400-154322400	Strong transcription	Dnd41	blood
3	chr1:154302400-154323200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:154302600-154322600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:154302600-154323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:154302800-154323000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:154303000-154322200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:154303000-154322600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:154303200-154322200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:154303200-154322400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:154303200-154323400	Strong transcription	Fetal Brain Female	brain
12	chr1:154303200-154324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:154304000-154322000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:154305800-154322200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr1:154306400-154322400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:154307600-154322600	Strong transcription	Osteobl	bone
17	chr1:154307600-154324600	Weak transcription	Right Atrium	heart
18	chr1:154307800-154323200	Strong transcription	Fetal Stomach	stomach
19	chr1:154307800-154323200	Strong transcription	NHLF	lung
20	chr1:154308000-154322600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:154308000-154323000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:154308200-154322200	Strong transcription	Fetal Muscle Leg	muscle
23	chr1:154308200-154323000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:154308200-154323200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:154308200-154323400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:154308600-154323000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:154309400-154322400	Strong transcription	Brain Cingulate Gyrus	brain
28	chr1:154309400-154322400	Strong transcription	NHDF-Ad	bronchial
29	chr1:154309600-154321800	Strong transcription	Fetal Lung	lung
30	chr1:154309600-154322200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:154309600-154322400	Strong transcription	Left Ventricle	heart
32	chr1:154309600-154322400	Strong transcription	Thymus	Thymus
33	chr1:154309600-154322800	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr1:154309600-154323000	Strong transcription	Brain Germinal Matrix	brain
35	chr1:154309600-154323200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:154309800-154321400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:154309800-154321400	Strong transcription	Placenta	Placenta
38	chr1:154309800-154322400	Strong transcription	Brain Angular Gyrus	brain
39	chr1:154309800-154322400	Strong transcription	Ovary	ovary
40	chr1:154309800-154322600	Strong transcription	Right Ventricle	heart
41	chr1:154310000-154322400	Strong transcription	Colon Smooth Muscle	Colon
42	chr1:154311600-154321600	Strong transcription	A549	lung
43	chr1:154311800-154321800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:154312000-154323200	Strong transcription	Fetal Intestine Small	intestine
45	chr1:154312200-154322400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:154312200-154325200	Weak transcription	Fetal Kidney	kidney
47	chr1:154312800-154322200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:154313400-154323800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:154314800-154323200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:154315200-154322400	Strong transcription	HSMM	muscle

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