Variant report

Variant	rs1216788
Chromosome Location	chr1:113586521-113586522
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113421587..113424736-chr1:113583992..113587746,3	K562	blood:
2	chr1:113490213..113492007-chr1:113585398..113587870,2	K562	blood:
3	chr1:113585683..113588057-chr1:113615686..113617260,2	K562	blood:
4	chr1:113582365..113584393-chr1:113584924..113587944,3	K562	blood:
5	chr1:113577576..113579367-chr1:113585664..113588475,2	K562	blood:
6	chr1:113496133..113500283-chr1:113583331..113586865,6	K562	blood:
7	chr1:113498071..113501633-chr1:113584474..113587906,3	MCF-7	breast:
8	chr1:113422357..113424436-chr1:113583945..113586627,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226419	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000238198	Chromatin interaction
ENSG00000198799	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1216764	0.85[AFR][1000 genomes]
rs1216765	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1216789	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1216794	1.00[AMR][1000 genomes]
rs1216795	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs1216806	1.00[AMR][1000 genomes]
rs1216809	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs1216811	1.00[AMR][1000 genomes]
rs1619202	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1766861	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs1778021	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2788259	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950633	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950637	1.00[AMR][1000 genomes]
rs7555465	0.83[YRI][hapmap]
rs946217	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	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
10	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
11	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
12	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
13	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113580200-113589200	Weak transcription	Right Atrium	heart
2	chr1:113582600-113587400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:113582800-113587600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:113583400-113586600	Enhancers	NHEK	skin
5	chr1:113583800-113586600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:113583800-113586600	Enhancers	Brain Anterior Caudate	brain
7	chr1:113584000-113586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:113584000-113586600	Enhancers	HSMM	muscle
9	chr1:113584000-113586800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:113584000-113586800	Enhancers	Fetal Intestine Small	intestine
11	chr1:113584200-113586600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:113584200-113586800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:113584200-113586800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:113584400-113586600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:113584400-113586600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:113584400-113586600	Enhancers	Fetal Muscle Leg	muscle
17	chr1:113584400-113586600	Enhancers	Placenta	Placenta
18	chr1:113584400-113586800	Enhancers	Fetal Intestine Large	intestine
19	chr1:113584400-113586800	Enhancers	Fetal Kidney	kidney
20	chr1:113584400-113587000	Enhancers	Fetal Thymus	thymus
21	chr1:113584600-113586600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr1:113584600-113586800	Enhancers	Colonic Mucosa	Colon
23	chr1:113584800-113586600	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:113584800-113586800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:113584800-113589400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:113585000-113591000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:113585200-113586600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:113585200-113588000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:113585400-113586600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:113585400-113586600	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:113585400-113586800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:113585400-113586800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:113585400-113588800	Weak transcription	Primary T cells from cord blood	blood
34	chr1:113585400-113588800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:113585400-113588800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:113585400-113589200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:113585600-113586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:113585600-113586800	Enhancers	HepG2	liver
39	chr1:113585600-113587800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:113585600-113588400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:113585600-113588800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:113585600-113588800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:113585600-113599200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:113585600-113601800	Weak transcription	Fetal Stomach	stomach
45	chr1:113585800-113586600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:113585800-113586600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:113585800-113586600	Enhancers	K562	blood
48	chr1:113585800-113586800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:113585800-113586800	Enhancers	GM12878-XiMat	blood
50	chr1:113585800-113586800	Enhancers	HMEC	breast

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