Variant report

Variant	rs12123072
Chromosome Location	chr1:113598549-113598550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113589205..113591108-chr1:113598010..113599977,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11102561	1.00[ASN][1000 genomes]
rs11102586	1.00[EUR][1000 genomes]
rs11102588	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11102592	1.00[CEU][hapmap]
rs12071491	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118061	0.83[EUR][1000 genomes]
rs12118532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119387	0.83[EUR][1000 genomes]
rs12120401	0.83[EUR][1000 genomes]
rs12120441	0.83[EUR][1000 genomes]
rs12120738	1.00[EUR][1000 genomes]
rs12123519	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123601	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12125675	0.83[EUR][1000 genomes]
rs12125708	0.83[EUR][1000 genomes]
rs12126304	0.83[EUR][1000 genomes]
rs12126316	1.00[ASN][1000 genomes]
rs12127415	0.83[EUR][1000 genomes]
rs12128658	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12129858	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12133057	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136395	0.83[EUR][1000 genomes]
rs12136941	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12137299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138968	1.00[ASN][1000 genomes]
rs12139726	0.83[EUR][1000 genomes]
rs12139899	0.83[EUR][1000 genomes]
rs12140067	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140810	0.83[EUR][1000 genomes]
rs12141018	1.00[ASN][1000 genomes]
rs12141415	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141540	0.83[EUR][1000 genomes]
rs12141541	0.83[EUR][1000 genomes]
rs12142449	0.83[EUR][1000 genomes]
rs12142475	0.83[EUR][1000 genomes]
rs12142510	0.83[EUR][1000 genomes]
rs12143171	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143341	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143430	0.83[EUR][1000 genomes]
rs12145713	0.83[EUR][1000 genomes]
rs12145738	0.83[EUR][1000 genomes]
rs1216767	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1216769	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1216793	0.86[EUR][1000 genomes]
rs1216798	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1216802	0.86[EUR][1000 genomes]
rs1216807	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1216808	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1216812	0.86[EUR][1000 genomes]
rs1216813	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12184272	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184320	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744661	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1310142	1.00[EUR][1000 genomes]
rs1618794	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17031006	1.00[EUR][1000 genomes]
rs1728227	0.86[EUR][1000 genomes]
rs1728229	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1728240	0.86[EUR][1000 genomes]
rs1766864	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1766865	1.00[CEU][hapmap]
rs1778016	0.86[EUR][1000 genomes]
rs1778017	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1778019	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs41296184	0.86[EUR][1000 genomes]
rs41306207	1.00[ASN][1000 genomes]
rs4839291	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4839292	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs56335344	1.00[ASN][1000 genomes]
rs6665673	1.00[ASN][1000 genomes]
rs6670587	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6695183	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs72982435	1.00[ASN][1000 genomes]
rs72982438	1.00[ASN][1000 genomes]
rs73000320	1.00[ASN][1000 genomes]
rs73000335	1.00[ASN][1000 genomes]
rs74111210	0.86[EUR][1000 genomes]
rs74111213	0.86[EUR][1000 genomes]
rs7518115	0.83[EUR][1000 genomes]
rs7531847	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7535389	1.00[ASN][1000 genomes]
rs7538813	0.86[EUR][1000 genomes]
rs7541119	1.00[ASN][1000 genomes]
rs7541246	0.83[EUR][1000 genomes]
rs7541520	0.83[EUR][1000 genomes]
rs7541703	0.83[EUR][1000 genomes]
rs7545814	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429503	1.00[ASN][1000 genomes]
rs946215	1.00[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
5	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
6	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
7	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
8	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
9	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv508537	chr1:113590343-113635803	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv437002	chr1:113592588-113658887	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113585600-113599200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:113585600-113601800	Weak transcription	Fetal Stomach	stomach
3	chr1:113586600-113599600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:113587400-113599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:113590000-113601400	Weak transcription	Right Atrium	heart
6	chr1:113596600-113599200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:113596600-113599600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:113596600-113599600	Weak transcription	Colonic Mucosa	Colon
9	chr1:113596600-113601400	Weak transcription	K562	blood
10	chr1:113596800-113599600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:113596800-113599600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:113596800-113599600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:113596800-113601800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:113596800-113601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:113596800-113601800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:113597200-113598600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:113597200-113599200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:113597200-113599600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:113597200-113599600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:113597200-113599600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:113597200-113599600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:113597200-113599600	Weak transcription	Fetal Lung	lung
23	chr1:113597200-113599800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:113597200-113599800	Weak transcription	Fetal Kidney	kidney
25	chr1:113597200-113599800	Weak transcription	HepG2	liver
26	chr1:113597400-113599200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:113597400-113599400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:113597400-113599600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:113597400-113599600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:113597400-113599800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:113597400-113601600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:113597600-113598600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:113597600-113599600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:113597600-113599600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:113597600-113599600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:113597600-113599800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:113597800-113599600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:113598000-113599800	Enhancers	Fetal Intestine Large	intestine
39	chr1:113598200-113598800	Enhancers	Stomach Mucosa	stomach

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