Variant report

Variant	rs2686828
Chromosome Location	chr7:47981235-47981236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47980359..47983354-chr7:48017215..48020655,3	K562	blood:
2	chr7:47977182..47979989-chr7:47980924..47982675,2	MCF-7	breast:
3	chr7:47976259..47978373-chr7:47980389..47982927,2	K562	blood:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10247714	0.83[EUR][1000 genomes]
rs12532323	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1879835	0.84[EUR][1000 genomes]
rs1879836	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2037484	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2037486	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2686819	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2686822	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2686824	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2686826	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2686829	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2686843	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs2708864	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2708892	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3176582	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs939903	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
2	chr7:47967600-47993400	Weak transcription	Brain Anterior Caudate	brain
3	chr7:47975800-47982400	Enhancers	Fetal Heart	heart
4	chr7:47976000-47986000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:47977400-47981800	Enhancers	Right Ventricle	heart
6	chr7:47977400-48000600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:47978400-47983600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:47978400-47993800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:47978400-47994000	Weak transcription	Fetal Thymus	thymus
10	chr7:47978600-47982000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:47978600-47992600	Weak transcription	Primary B cells from cord blood	blood
12	chr7:47978800-47981400	Enhancers	Spleen	Spleen
13	chr7:47978800-47983600	Enhancers	NHLF	lung
14	chr7:47979000-47981800	Enhancers	Right Atrium	heart
15	chr7:47979000-47982400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:47979200-47981800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr7:47979200-47982000	Enhancers	Left Ventricle	heart
18	chr7:47979400-47981400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:47979400-47981800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:47979400-47982400	Enhancers	HSMMtube	muscle
21	chr7:47979400-47983800	Enhancers	NHDF-Ad	bronchial
22	chr7:47979600-47981400	Enhancers	Adipose Nuclei	Adipose
23	chr7:47979600-47982000	Enhancers	Osteobl	bone
24	chr7:47979600-47984200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:47979600-47986000	Enhancers	HUVEC	blood vessel
26	chr7:47979800-47981800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:47979800-47981800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:47979800-47982000	Enhancers	Placenta	Placenta
29	chr7:47979800-47982400	Enhancers	Fetal Muscle Leg	muscle
30	chr7:47980000-47981400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:47980000-47981800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:47980000-47982000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:47980000-47982000	Enhancers	NH-A	brain
34	chr7:47980200-47981400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:47980200-47981800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr7:47980200-47981800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:47980200-47982000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:47980200-47982000	Enhancers	HMEC	breast
39	chr7:47980200-47982400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:47980400-47981800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:47980400-47981800	Enhancers	A549	lung
42	chr7:47980400-47982000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:47980400-47982000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:47980400-47982000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:47980400-47982000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr7:47980400-47982000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr7:47980600-47981400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:47980600-47982000	Enhancers	Hela-S3	cervix
49	chr7:47980600-47986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:47980600-47994200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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