Variant report

Variant	rs2057984
Chromosome Location	chr7:86826540-86826541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86820172..86822835-chr7:86826143..86828085,2	K562	blood:
2	chr7:86821767..86823921-chr7:86825171..86826962,2	MCF-7	breast:
3	chr7:86821386..86824076-chr7:86824725..86827371,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135164	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10085726	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10228392	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10231010	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10238917	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10244350	0.89[CEU][hapmap]
rs1024457	1.00[CEU][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10257953	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10273853	0.89[CEU][hapmap]
rs10952896	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2074757	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2108271	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2108272	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2190424	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.94[EUR][1000 genomes]
rs2286268	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2373387	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2373388	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3747807	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3789251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs3789252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4140847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4400318	0.90[EUR][1000 genomes]
rs4639442	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4727146	0.90[EUR][1000 genomes]
rs4728686	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4728689	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6465093	1.00[CEU][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs6465101	0.90[EUR][1000 genomes]
rs6952384	0.90[EUR][1000 genomes]
rs6968640	0.90[CEU][hapmap]
rs6975202	0.90[EUR][1000 genomes]
rs757961	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[YRI][hapmap];0.92[EUR][1000 genomes]
rs765968	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7780698	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs7810647	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs886787	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	nsv1026193	chr7:86790391-86856448	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv539003	chr7:86790391-86856448	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86783000-86834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:86786600-86828400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:86788600-86830400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:86788600-86832400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:86789000-86832400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:86789000-86832400	Strong transcription	Dnd41	blood
7	chr7:86789400-86830800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:86789600-86832400	Strong transcription	Fetal Thymus	thymus
9	chr7:86789800-86833000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:86791000-86831600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:86791200-86829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:86791400-86830000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:86791400-86831800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:86791400-86831800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:86791600-86830600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr7:86791600-86830600	Strong transcription	NHDF-Ad	bronchial
17	chr7:86791800-86831000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:86792000-86829200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:86792400-86827200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:86792400-86828600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:86792400-86828600	Strong transcription	HUVEC	blood vessel
22	chr7:86792400-86829800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr7:86792400-86831600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:86792600-86828800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:86792600-86829800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr7:86792600-86830800	Strong transcription	Primary B cells from cord blood	blood
27	chr7:86792600-86832200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:86793400-86833400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:86794200-86832200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr7:86803400-86831400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:86804600-86832400	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr7:86807000-86832200	Strong transcription	HSMM	muscle
33	chr7:86808600-86827800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr7:86808600-86828400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr7:86808600-86828800	Strong transcription	Liver	Liver
36	chr7:86808600-86830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:86808800-86826800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr7:86808800-86827600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:86808800-86827800	Strong transcription	Placenta	Placenta
40	chr7:86808800-86829200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:86808800-86830600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:86809400-86829400	Strong transcription	Fetal Intestine Large	intestine
43	chr7:86809800-86826800	Strong transcription	Primary T cells from cord blood	blood
44	chr7:86810200-86827600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:86810200-86829000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:86810600-86827600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:86810600-86828600	Strong transcription	Adipose Nuclei	Adipose
48	chr7:86810600-86830000	Strong transcription	Fetal Lung	lung
49	chr7:86810600-86832200	Strong transcription	Osteobl	bone
50	chr7:86810800-86826800	Strong transcription	Fetal Kidney	kidney

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