Variant report

Variant	rs72994119
Chromosome Location	chr1:113361304-113361305
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113360437..113362050-chr1:113412669..113415625,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs4348718	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4501838	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56926165	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57229341	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57922004	1.00[AMR][1000 genomes]
rs59716713	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61425247	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661427	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669638	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6670109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6672752	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673564	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679888	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688787	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688789	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703705	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994146	0.89[AFR][1000 genomes]
rs72996311	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996313	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996345	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer 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	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv818378	chr1:113263711-113434818	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1008434	chr1:113288282-113447426	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
12	nsv872160	chr1:113301657-113409751	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv547567	chr1:113313563-113384015	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1000352	chr1:113350929-113405903	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv1011519	chr1:113351374-113402040	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
17	esv3374684	chr1:113359959-113414316	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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 target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113342000-113361800	Weak transcription	Right Atrium	heart
2	chr1:113352400-113369200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:113353200-113364400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:113353200-113364800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:113358400-113361800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:113358400-113362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:113359000-113362800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:113359200-113366000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:113360000-113362400	Enhancers	Fetal Intestine Large	intestine
10	chr1:113360200-113362200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:113360200-113362600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:113360200-113364800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:113360200-113365000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:113360400-113361600	Enhancers	K562	blood
15	chr1:113360400-113362200	Enhancers	Hela-S3	cervix
16	chr1:113360400-113362400	Enhancers	Placenta	Placenta
17	chr1:113360400-113362800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:113360600-113361400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:113360600-113361600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:113360600-113361600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:113360600-113361800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:113360800-113361600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:113360800-113361600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:113360800-113361800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:113360800-113361800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:113360800-113361800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:113360800-113361800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:113360800-113361800	Weak transcription	Fetal Intestine Small	intestine
29	chr1:113360800-113361800	Weak transcription	HSMM	muscle
30	chr1:113360800-113362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:113360800-113362400	Enhancers	NH-A	brain
32	chr1:113360800-113364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:113360800-113364600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:113361000-113361400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:113361000-113361400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:113361000-113361800	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:113361000-113362000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:113361000-113365600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:113361200-113361600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr1:113361200-113361800	Enhancers	HUVEC	blood vessel
41	chr1:113361200-113361800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr1:113361200-113362400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
43	chr1:113361200-113362400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:113361200-113362800	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links