Variant report

Variant	rs35002034
Chromosome Location	chr19:42929254-42929255
allele	C/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	CTCF	chr19:42928760-42929321	K562	blood:	n/a	n/a
2	RAD21	chr19:42928801-42929279	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr19:42929200-42929350	HFF-Myc	foreskin:	n/a	n/a
4	E2F6	chr19:42927058-42929329	H1-hESC	embryonic stem cell:	n/a	chr19:42928201-42928211 chr19:42928458-42928469 chr19:42928162-42928171 chr19:42928385-42928394
5	MAX	chr19:42927125-42929267	H1-hESC	embryonic stem cell:	n/a	chr19:42928020-42928035 chr19:42928021-42928032 chr19:42928022-42928031 chr19:42928353-42928363 chr19:42928160-42928170 chr19:42928023-42928030 chr19:42927636-42927646 chr19:42928021-42928032

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42927142..42929606-chr19:42930289..42932952,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011497.1-2	chr19:42927907-42929356	NONHSAT066551
2	lnc-AC011497.1-2	chr19:42928421-42929356	ENSG00000213904.4
3	lnc-AC011497.1-2	chr19:42928465-42929294	ENSG00000213904.4
4	lnc-AC011497.1-2	chr19:42927907-42929356	ENSG00000213904.4

Variant related genes	Relation type
ENSG00000268605	TF binding region
LIPE	TF binding region
ENSG00000079435	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10518265	1.00[EUR][1000 genomes]
rs16975748	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975813	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975816	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975848	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975958	1.00[EUR][1000 genomes]
rs1903724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34044249	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34097578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34147019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366776	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34381435	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34637823	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34734442	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34760209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34923099	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35038065	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35135831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35213872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35266309	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35312827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35349390	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35409716	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35544765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35855384	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35917849	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35969273	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3745238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4635443	1.00[EUR][1000 genomes]
rs55697425	1.00[EUR][1000 genomes]
rs56271304	1.00[EUR][1000 genomes]
rs56312460	1.00[EUR][1000 genomes]
rs57516100	1.00[EUR][1000 genomes]
rs58405647	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58845793	1.00[EUR][1000 genomes]
rs59983776	1.00[EUR][1000 genomes]
rs60389892	1.00[EUR][1000 genomes]
rs60993923	1.00[EUR][1000 genomes]
rs61661961	1.00[EUR][1000 genomes]
rs7253354	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73932713	1.00[EUR][1000 genomes]
rs73932727	1.00[EUR][1000 genomes]
rs73932730	1.00[EUR][1000 genomes]
rs73932732	1.00[EUR][1000 genomes]
rs73932734	1.00[EUR][1000 genomes]
rs73932736	1.00[EUR][1000 genomes]
rs73932737	1.00[EUR][1000 genomes]
rs73932738	1.00[EUR][1000 genomes]
rs73932739	1.00[EUR][1000 genomes]
rs73932741	1.00[EUR][1000 genomes]
rs73932742	1.00[EUR][1000 genomes]
rs73932744	1.00[EUR][1000 genomes]
rs73932746	1.00[EUR][1000 genomes]
rs73932747	1.00[EUR][1000 genomes]
rs73932748	1.00[EUR][1000 genomes]
rs73932750	1.00[EUR][1000 genomes]
rs73932751	1.00[EUR][1000 genomes]
rs73932752	1.00[EUR][1000 genomes]
rs73932754	1.00[EUR][1000 genomes]
rs73932761	1.00[EUR][1000 genomes]
rs73932762	1.00[EUR][1000 genomes]
rs73936020	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936024	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73936031	1.00[EUR][1000 genomes]
rs73936032	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8105476	1.00[EUR][1000 genomes]
rs8109269	1.00[EUR][1000 genomes]
rs8110316	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong 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	15 gene(s)	inside rSNPs	diseases
9	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription 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	15 gene(s)	inside rSNPs	diseases
11	nsv911798	chr19:42904653-42930652	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv911799	chr19:42905645-42930652	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv911800	chr19:42906914-42930652	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv911801	chr19:42910416-42929502	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv911802	chr19:42915110-42929254	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv911804	chr19:42916841-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv911807	chr19:42920555-42929254	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv579633	chr19:42925636-42929254	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv911808	chr19:42925636-42930652	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928200-42929400	Enhancers	Fetal Brain Male	brain
2	chr19:42928200-42929400	Enhancers	Spleen	Spleen
3	chr19:42928400-42929400	Enhancers	Ovary	ovary
4	chr19:42928400-42929400	Enhancers	Right Ventricle	heart
5	chr19:42928400-42930000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:42928400-42931000	Weak transcription	NHDF-Ad	bronchial
7	chr19:42928600-42929400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr19:42928600-42929400	Enhancers	Primary B cells from cord blood	blood
9	chr19:42928600-42929400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr19:42928600-42929600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr19:42928600-42929600	Enhancers	Fetal Intestine Large	intestine
12	chr19:42928600-42929600	Bivalent Enhancer	Placenta	Placenta
13	chr19:42928600-42931600	Weak transcription	Fetal Lung	lung
14	chr19:42928600-42936600	Weak transcription	Right Atrium	heart
15	chr19:42928600-42936800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:42928600-42937000	Weak transcription	Brain Substantia Nigra	brain
17	chr19:42928800-42929400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:42928800-42929400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr19:42928800-42929600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:42928800-42929600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:42928800-42930600	Weak transcription	Brain Anterior Caudate	brain
22	chr19:42928800-42930800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:42928800-42930800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:42928800-42931000	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:42928800-42932600	Weak transcription	Brain Angular Gyrus	brain
26	chr19:42928800-42937200	Weak transcription	Lung	lung
27	chr19:42928800-42937400	Weak transcription	Stomach Mucosa	stomach
28	chr19:42928800-42937600	Weak transcription	Brain Germinal Matrix	brain
29	chr19:42928800-42937600	Weak transcription	Gastric	stomach
30	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
31	chr19:42929000-42929400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr19:42929000-42929400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr19:42929000-42929400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
34	chr19:42929000-42937600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:42929200-42929400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
36	chr19:42929200-42929400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr19:42929200-42929400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr19:42929200-42929400	Enhancers	Fetal Intestine Small	intestine
39	chr19:42929200-42929400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
40	chr19:42929200-42929400	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr19:42929200-42929400	Enhancers	K562	blood
42	chr19:42929200-42929600	Flanking Active TSS	Fetal Heart	heart
43	chr19:42929200-42929800	Enhancers	Fetal Stomach	stomach
44	chr19:42929200-42930600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:42929200-42930600	Weak transcription	Left Ventricle	heart
46	chr19:42929200-42931000	Active TSS	Adipose Nuclei	Adipose

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