Variant report

Variant	rs35951
Chromosome Location	chr5:53592361-53592362
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53592340..53594521-chr5:53596956..53599704,2	MCF-7	breast:
2	chr5:53577274..53579314-chr5:53590478..53592809,3	MCF-7	breast:
3	chr5:53588809..53592825-chr5:53593597..53595547,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs250391	0.81[ASN][1000 genomes]
rs35952	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv881616	chr5:53305742-53639975	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv881018	chr5:53305742-53744849	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv880734	chr5:53305742-53770217	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881161	chr5:53305742-53815495	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
7	nsv881600	chr5:53305742-53823285	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv598176	chr5:53311502-53739530	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv880773	chr5:53311918-53815495	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
10	nsv1024303	chr5:53317896-53788276	Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1029224	chr5:53317896-53812899	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv949098	chr5:53317990-53816782	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
13	nsv1020517	chr5:53324930-53759046	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1017768	chr5:53326385-53752165	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1032352	chr5:53327170-53762973	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
16	nsv598177	chr5:53333477-53755208	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
17	nsv881056	chr5:53368869-53744849	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv881408	chr5:53386267-53815495	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv1031072	chr5:53490130-53698866	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv880304	chr5:53524508-53727092	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv598178	chr5:53566211-53600443	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv880904	chr5:53574006-53737364	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Alcohol dependence (age at onset)	24962325	GWAS catalog

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53568200-53595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:53576000-53594200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr5:53576200-53604400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:53584400-53597200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:53586000-53599600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:53587200-53602800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:53588400-53604800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:53590200-53593000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:53590200-53593200	Enhancers	Fetal Heart	heart
10	chr5:53590200-53593400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr5:53590600-53593400	Enhancers	Colon Smooth Muscle	Colon
12	chr5:53591000-53598000	Weak transcription	Primary T cells from cord blood	blood
13	chr5:53591200-53592600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:53591200-53592600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:53591200-53592600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:53591200-53592800	Enhancers	Brain Substantia Nigra	brain
17	chr5:53591200-53592800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:53591200-53592800	Enhancers	Esophagus	oesophagus
19	chr5:53591200-53592800	Enhancers	Spleen	Spleen
20	chr5:53591200-53593000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:53591200-53593200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:53591200-53593200	Enhancers	Psoas Muscle	Psoas
23	chr5:53591200-53593200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr5:53591200-53593400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:53591200-53593400	Enhancers	Left Ventricle	heart
26	chr5:53591200-53593400	Enhancers	Right Ventricle	heart
27	chr5:53591200-53593400	Enhancers	Stomach Mucosa	stomach
28	chr5:53591200-53593600	Enhancers	Right Atrium	heart
29	chr5:53591400-53592400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:53591400-53592800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:53591400-53592800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr5:53591400-53592800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr5:53591600-53592400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:53591600-53592400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:53591600-53592600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:53591600-53592600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:53591600-53592600	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:53591600-53592600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:53591600-53592600	Enhancers	Brain Anterior Caudate	brain
40	chr5:53591600-53592800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:53591600-53592800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:53591600-53592800	Enhancers	Liver	Liver
43	chr5:53591600-53592800	Enhancers	Fetal Muscle Leg	muscle
44	chr5:53591600-53593000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:53591600-53593200	Enhancers	Small Intestine	intestine
46	chr5:53591600-53593400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:53591600-53593400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:53591800-53592400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr5:53591800-53592400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr5:53591800-53592600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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