Variant report

Variant	rs10231389
Chromosome Location	chr7:98694518-98694519
allele	G/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98692455..98694534-chr7:98696976..98699022,2	K562	blood:
2	chr7:98689928..98692468-chr7:98692672..98695703,4	K562	blood:
3	chr7:98690668..98694629-chr7:98738335..98742614,7	MCF-7	breast:
4	chr7:98692455..98696355-chr7:98696976..98702549,8	K562	blood:
5	chr7:98693622..98696296-chr7:98921457..98924410,2	MCF-7	breast:
6	chr7:98694291..98695902-chr7:98757331..98759613,2	K562	blood:
7	chr7:98685529..98691307-chr7:98694168..98698506,8	K562	blood:
8	chr7:98686865..98690121-chr7:98692505..98695831,3	MCF-7	breast:
9	chr7:98693098..98695853-chr7:98699875..98701530,2	MCF-7	breast:
10	chr7:98693435..98695092-chr7:98699755..98702511,2	MCF-7	breast:
11	chr7:98692886..98696596-chr7:98738991..98743236,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction
ENSG00000241685	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10280276	1.00[MEX][hapmap]
rs1115930	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11770956	0.83[EUR][1000 genomes]
rs122152	1.00[TSI][hapmap]
rs12534243	1.00[AMR][1000 genomes]
rs12705023	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13237374	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2138087	1.00[MEX][hapmap]
rs2176021	0.85[AFR][1000 genomes]
rs219801	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs219810	1.00[TSI][hapmap]
rs219811	1.00[TSI][hapmap]
rs28760348	1.00[EUR][1000 genomes]
rs4292617	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4510778	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4604368	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955273	0.82[AFR][1000 genomes]
rs6956482	1.00[EUR][1000 genomes]
rs6975671	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6979768	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS 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 miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98676600-98702200	Weak transcription	Brain Germinal Matrix	brain
2	chr7:98677000-98694800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:98677000-98696200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:98677000-98696200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:98677000-98700000	Weak transcription	HSMM	muscle
6	chr7:98677200-98705400	Weak transcription	Fetal Thymus	thymus
7	chr7:98678800-98700000	Weak transcription	HUVEC	blood vessel
8	chr7:98681800-98700600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:98684400-98706600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:98684600-98694600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:98684600-98694800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:98684600-98694800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:98688200-98696800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:98689000-98695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:98689200-98695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:98689200-98696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:98689200-98696200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:98690400-98696600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:98690600-98695000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:98690600-98700400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:98690800-98694800	Weak transcription	Gastric	stomach
22	chr7:98691200-98696200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:98691600-98696200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:98692000-98695400	Enhancers	HepG2	liver
25	chr7:98692200-98696200	Enhancers	NHLF	lung
26	chr7:98692200-98697200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:98692400-98695800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:98692600-98701000	Weak transcription	Fetal Brain Male	brain
29	chr7:98692600-98706800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr7:98692800-98694600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:98692800-98694800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:98693000-98695000	Enhancers	Stomach Mucosa	stomach
33	chr7:98693000-98697400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:98693200-98694600	Enhancers	Brain Anterior Caudate	brain
35	chr7:98693200-98694600	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:98693200-98695000	Enhancers	A549	lung
37	chr7:98693200-98696600	Enhancers	Osteobl	bone
38	chr7:98693400-98694600	Enhancers	Fetal Heart	heart
39	chr7:98693400-98696200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:98693400-98697600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:98693600-98694600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr7:98693600-98694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:98693600-98696200	Enhancers	NHEK	skin
44	chr7:98693800-98694600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr7:98693800-98694600	Enhancers	NHDF-Ad	bronchial
46	chr7:98693800-98695400	Weak transcription	Spleen	Spleen
47	chr7:98693800-98696400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:98693800-98696400	Weak transcription	Placenta	Placenta
49	chr7:98693800-98696600	Weak transcription	Colonic Mucosa	Colon
50	chr7:98693800-98697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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