Variant report

Variant	rs6952999
Chromosome Location	chr7:140226526-140226527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140177964..140180320-chr7:140226044..140228457,2	K562	blood:
2	chr7:140225049..140227766-chr7:140230491..140233082,2	MCF-7	breast:
3	chr7:140225801..140226680-chr7:140238819..140239379,2	K562	blood:
4	chr7:140225861..140227593-chr7:140371387..140374219,2	MCF-7	breast:
5	chr7:140224000..140226834-chr7:140322770..140324470,2	MCF-7	breast:
6	chr7:140217452..140219514-chr7:140224086..140226868,2	K562	blood:

Variant related genes	Relation type
ENSG00000133597	Chromatin interaction
ENSG00000146966	Chromatin interaction
ENSG00000133606	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10237118	0.84[EUR][1000 genomes]
rs10277628	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10280493	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977004	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538386	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs2363830	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs269251	1.00[ASN][1000 genomes]
rs269252	1.00[ASN][1000 genomes]
rs6464833	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6942494	0.84[EUR][1000 genomes]
rs6943477	0.90[EUR][1000 genomes]
rs6948434	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948774	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952208	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6952414	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6975258	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976066	0.98[EUR][1000 genomes]
rs6980049	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2761112	chr7:140191538-140234571	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv464735	chr7:140195463-140233585	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv608501	chr7:140195463-140233585	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1015856	chr7:140197079-140235677	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1019815	chr7:140206590-140235677	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140206800-140233200	Weak transcription	Brain Angular Gyrus	brain
2	chr7:140207000-140241000	Weak transcription	Fetal Brain Male	brain
3	chr7:140212600-140227000	Weak transcription	Lung	lung
4	chr7:140216600-140227600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:140216800-140229000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:140216800-140230600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:140218200-140241400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:140219000-140226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:140219000-140233200	Weak transcription	NHDF-Ad	bronchial
10	chr7:140219200-140226600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:140219200-140240800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:140219400-140229000	Strong transcription	Fetal Stomach	stomach
13	chr7:140219600-140240800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:140219800-140233200	Strong transcription	Fetal Muscle Leg	muscle
15	chr7:140221400-140226600	Strong transcription	Ovary	ovary
16	chr7:140222000-140234600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:140223400-140241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:140223600-140235000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:140223600-140238000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:140223600-140240800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:140223800-140234400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:140224000-140233200	Weak transcription	Placenta	Placenta
23	chr7:140224000-140239200	Weak transcription	Brain Anterior Caudate	brain
24	chr7:140225000-140226600	Strong transcription	Fetal Intestine Large	intestine
25	chr7:140225000-140227400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:140225200-140227000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:140225400-140226600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr7:140225400-140226600	Strong transcription	Brain Germinal Matrix	brain
29	chr7:140225400-140226600	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:140225400-140226800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:140225400-140226800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr7:140225400-140227000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:140225400-140227000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:140225400-140227000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:140225400-140227200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:140225400-140227200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr7:140225400-140227200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:140225400-140227200	Strong transcription	Fetal Brain Female	brain
39	chr7:140225400-140227400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:140225400-140227400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:140225400-140227400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:140225400-140227400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:140225400-140227400	Strong transcription	Fetal Intestine Small	intestine
44	chr7:140225400-140227400	Strong transcription	NHLF	lung
45	chr7:140225400-140227600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:140225400-140227600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:140225400-140228200	Strong transcription	Adipose Nuclei	Adipose
48	chr7:140225400-140228200	Strong transcription	Brain Substantia Nigra	brain
49	chr7:140225400-140228200	Strong transcription	Fetal Lung	lung
50	chr7:140225600-140226600	Enhancers	Primary T cells from cord blood	blood

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