Variant report

Variant	rs1933656
Chromosome Location	chr1:113683687-113683688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113681546..113685341-chr1:113929914..113934703,7	MCF-7	breast:
2	chr1:113683191..113683712-chr1:113930987..113931505,2	MCF-7	breast:
3	chr1:113683220..113683772-chr1:114491446..114492419,2	K562	blood:
4	chr1:113679152..113685949-chr1:113930075..113933879,13	MCF-7	breast:
5	chr1:113682884..113683782-chr1:114220579..114221082,2	K562	blood:
6	chr1:113682819..113684058-chr1:113995303..113996916,12	MCF-7	breast:
7	chr1:113683228..113683839-chr1:113930885..113931565,2	MCF-7	breast:
8	chr1:113682753..113683817-chr1:114220119..114221170,5	MCF-7	breast:
9	chr1:113683268..113683799-chr1:114825258..114826116,2	K562	blood:
10	chr1:113683069..113683765-chr1:113720585..113721847,4	MCF-7	breast:
11	chr1:113683011..113687065-chr1:113687072..113690657,5	K562	blood:
12	chr1:113680385..113687065-chr1:113687067..113690757,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10442680	0.81[EUR][1000 genomes]
rs10494148	0.90[EUR][1000 genomes]
rs10494149	0.91[EUR][1000 genomes]
rs10494150	0.91[EUR][1000 genomes]
rs10494152	0.94[EUR][1000 genomes]
rs10494153	0.81[EUR][1000 genomes]
rs10776764	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11102590	0.92[EUR][1000 genomes]
rs11102591	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12070586	0.91[EUR][1000 genomes]
rs12072108	0.91[EUR][1000 genomes]
rs12073607	0.91[EUR][1000 genomes]
rs12123070	0.94[EUR][1000 genomes]
rs12123194	0.94[EUR][1000 genomes]
rs12123876	0.94[EUR][1000 genomes]
rs12125209	0.88[EUR][1000 genomes]
rs12125253	0.88[EUR][1000 genomes]
rs12125281	0.94[EUR][1000 genomes]
rs12125282	0.94[EUR][1000 genomes]
rs12126040	0.94[EUR][1000 genomes]
rs12126180	0.94[EUR][1000 genomes]
rs12126412	0.94[EUR][1000 genomes]
rs12126415	0.94[EUR][1000 genomes]
rs12127119	0.94[EUR][1000 genomes]
rs12127186	0.94[EUR][1000 genomes]
rs12129741	0.94[EUR][1000 genomes]
rs12129773	0.94[EUR][1000 genomes]
rs12129924	0.88[EUR][1000 genomes]
rs12130429	0.88[EUR][1000 genomes]
rs12130787	0.94[EUR][1000 genomes]
rs12131406	0.86[EUR][1000 genomes]
rs12132547	0.94[EUR][1000 genomes]
rs12133159	0.86[EUR][1000 genomes]
rs12133521	0.86[EUR][1000 genomes]
rs12134261	0.94[EUR][1000 genomes]
rs12134347	0.91[EUR][1000 genomes]
rs12136369	0.94[EUR][1000 genomes]
rs12137440	0.94[EUR][1000 genomes]
rs12140812	0.81[EUR][1000 genomes]
rs12141374	0.88[EUR][1000 genomes]
rs12141890	0.90[EUR][1000 genomes]
rs1216791	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1216796	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1216797	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1216872	0.91[EUR][1000 genomes]
rs1216873	0.89[EUR][1000 genomes]
rs1216884	0.86[EUR][1000 genomes]
rs12404563	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12405087	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12723657	0.88[EUR][1000 genomes]
rs12728957	0.94[EUR][1000 genomes]
rs12732564	0.89[EUR][1000 genomes]
rs12736831	0.94[EUR][1000 genomes]
rs12745847	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12748429	0.88[EUR][1000 genomes]
rs12757593	0.92[EUR][1000 genomes]
rs12760482	0.88[EUR][1000 genomes]
rs1316767	0.88[EUR][1000 genomes]
rs1324893	0.81[EUR][1000 genomes]
rs1661	0.92[EUR][1000 genomes]
rs17031099	0.92[EUR][1000 genomes]
rs17031158	0.88[EUR][1000 genomes]
rs17031160	0.88[EUR][1000 genomes]
rs17497065	0.81[EUR][1000 genomes]
rs1933660	0.94[EUR][1000 genomes]
rs1999905	0.94[EUR][1000 genomes]
rs1999906	0.94[EUR][1000 genomes]
rs2185105	0.88[EUR][1000 genomes]
rs2185106	0.88[EUR][1000 genomes]
rs2359709	0.87[EUR][1000 genomes]
rs2359710	0.88[EUR][1000 genomes]
rs2359711	0.88[EUR][1000 genomes]
rs34236373	0.90[EUR][1000 genomes]
rs34441710	0.94[EUR][1000 genomes]
rs35368423	0.94[EUR][1000 genomes]
rs35470019	0.94[EUR][1000 genomes]
rs35737003	0.87[EUR][1000 genomes]
rs35793987	0.91[EUR][1000 genomes]
rs35822819	0.86[EUR][1000 genomes]
rs36049267	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4240536	0.91[EUR][1000 genomes]
rs4427400	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4630126	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4839290	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4839293	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4839295	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4839296	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4839297	0.94[EUR][1000 genomes]
rs56204018	0.91[EUR][1000 genomes]
rs6537773	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537777	0.94[EUR][1000 genomes]
rs6683099	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67028986	0.94[EUR][1000 genomes]
rs67038449	0.94[EUR][1000 genomes]
rs72685622	0.91[EUR][1000 genomes]
rs749956	0.90[EUR][1000 genomes]
rs7513596	0.94[EUR][1000 genomes]
rs7513698	0.94[EUR][1000 genomes]
rs7515810	0.88[EUR][1000 genomes]
rs7521854	0.87[EUR][1000 genomes]
rs7540970	0.88[EUR][1000 genomes]
rs7543653	0.92[EUR][1000 genomes]
rs7548091	0.92[EUR][1000 genomes]
rs7551138	0.92[EUR][1000 genomes]
rs7556148	0.91[EUR][1000 genomes]
rs7556534	0.86[EUR][1000 genomes]
rs946220	0.81[EUR][1000 genomes]
rs9628702	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
8	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
9	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
10	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113667400-113685200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:113669600-113685400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:113669600-113689400	Weak transcription	Thymus	Thymus
4	chr1:113669800-113683800	Weak transcription	Fetal Kidney	kidney
5	chr1:113669800-113683800	Weak transcription	HSMMtube	muscle
6	chr1:113669800-113685000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:113669800-113685000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:113669800-113690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:113670000-113685400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:113678000-113684200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:113678000-113685000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:113682400-113684600	Enhancers	Fetal Brain Male	brain
13	chr1:113682800-113684800	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:113682800-113687400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:113683000-113683800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:113683000-113684000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:113683000-113684000	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:113683000-113684000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:113683000-113684000	Enhancers	Brain Substantia Nigra	brain
20	chr1:113683000-113685200	Enhancers	Fetal Intestine Large	intestine
21	chr1:113683000-113686200	Enhancers	Stomach Mucosa	stomach
22	chr1:113683000-113687000	Enhancers	Ovary	ovary
23	chr1:113683200-113683800	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:113683200-113684000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:113683200-113684000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:113683200-113684600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:113683200-113685000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:113683400-113683800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:113683400-113683800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr1:113683400-113683800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:113683400-113683800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:113683400-113683800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:113683400-113683800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:113683400-113683800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:113683400-113683800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:113683400-113683800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr1:113683400-113683800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr1:113683400-113683800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:113683400-113683800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:113683400-113683800	Enhancers	Aorta	Aorta
41	chr1:113683400-113683800	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr1:113683400-113683800	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr1:113683400-113683800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr1:113683400-113683800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:113683400-113683800	Enhancers	Fetal Muscle Trunk	muscle
46	chr1:113683400-113683800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:113683400-113683800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:113683400-113683800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:113683400-113684000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:113683400-113684000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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