Variant report

Variant	rs10231504
Chromosome Location	chr7:28033002-28033003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:28032986-28033036	HAEpiC	amniotic membrane:	n/a
2	chr7:28032986-28033036	ProgFib	skin:	n/a
3	chr7:28032986-28033036	HCPEpiC	choroid plexus:	n/a
4	chr7:28032986-28033036	Hepatocyte	liver:	n/a
5	chr7:28032986-28033036	H1-hESC	embryonic stem cell:	embryo
6	chr7:28032986-28033036	HRCEpiC	kidney:	n/a
7	chr7:28032986-28033036	Hela-S3	cervix:	n/a
8	chr7:28032986-28033036	AG09319	gingival:	n/a
9	chr7:28032986-28033036	AoSMC	blood vessel:	n/a
10	chr7:28032986-28033036	HEK293	kidney:	embryo
11	chr7:28032986-28033036	SK-N-SH_RA	brain:	n/a
12	chr7:28032986-28033036	MCF-7	breast:	n/a
13	chr7:28032986-28033036	IMR90	lung:	fetal
14	chr7:28032986-28033036	T-47D	breast:	n/a
15	chr7:28032986-28033036	NHDF-neo	bronchial:	n/a
16	chr7:28032986-28033036	HNPCEpiC	eye:	n/a
17	chr7:28032986-28033036	HCF	heart:	n/a
18	chr7:28032986-28033036	ovcar-3	ovarian:	n/a
19	chr7:28032986-28033036	HMEC	breast:	n/a
20	chr7:28032986-28033036	ECC-1	luminal epithelium:	n/a
21	chr7:28032986-28033036	U87	brain:	n/a
22	chr7:28032986-28033036	GM06990	blood:	n/a
23	chr7:28032986-28033036	GM12878	blood:	n/a
24	chr7:28032986-28033036	Jurkat	blood:	n/a
25	chr7:28032986-28033036	A549	lung:	n/a
26	chr7:28032986-28033036	HUVEC	blood vessel:	n/a
27	chr7:28032986-28033036	GM19239	blood:	n/a
28	chr7:28032986-28033036	HEEpiC	esophagus:	n/a
29	chr7:28032986-28033036	LNCaP	prostate:	n/a
30	chr7:28032986-28033036	RPTEC	kidney:	n/a
31	chr7:28032986-28033036	SK-N-SH	brain:	n/a
32	chr7:28032986-28033036	HIPEpiC	eye:	n/a
33	chr7:28032986-28033036	PANC-1	pancreas:	n/a
34	chr7:28032986-28033036	AG09309	skin:	n/a
35	chr7:28032986-28033036	MCF10A-Er-Src	breast:	n/a
36	chr7:28032986-28033036	SAEC	small airway:	n/a
37	chr7:28032986-28033036	HRE	kidney:	n/a
38	chr7:28032986-28033036	AG04449	skin:	fetal
39	chr7:28032986-28033036	HL-60	blood:	n/a
40	chr7:28032986-28033036	Caco-2	colon:	n/a
41	chr7:28032986-28033036	NHBE	bronchial:	n/a
42	chr7:28032986-28033036	CMK	blood:	n/a
43	chr7:28032986-28033036	HRPEpiC	eye:	n/a
44	chr7:28032986-28033036	NT2-D1	testis:	n/a
45	chr7:28032986-28033036	NB4	blood:	n/a
46	chr7:28032986-28033036	BE2_C	brain:	n/a
47	chr7:28032986-28033036	HepG2	liver:	n/a
48	chr7:28032986-28033036	K562	blood:	n/a
49	chr7:28032986-28033036	AG04450	lung:	fetal
50	chr7:28032986-28033036	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
JAZF1	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10231892	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10250579	1.00[YRI][hapmap]
rs10254387	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259651	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs28516051	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28528810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28751937	0.84[AFR][1000 genomes]
rs6965368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6967961	1.00[AMR][1000 genomes]
rs6968677	1.00[YRI][hapmap]
rs6972785	0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6980134	0.93[AFR][1000 genomes]
rs7795759	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7799801	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7800252	1.00[YRI][hapmap]
rs7800622	1.00[YRI][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28002800-28034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:28013400-28034200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:28017600-28042400	Weak transcription	Aorta	Aorta
4	chr7:28022400-28036200	Weak transcription	Lung	lung
5	chr7:28027200-28045800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:28027800-28039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:28029400-28034400	Weak transcription	Osteobl	bone
8	chr7:28030600-28033400	Enhancers	Colon Smooth Muscle	Colon
9	chr7:28030600-28038600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:28030800-28033600	Enhancers	Brain Anterior Caudate	brain
11	chr7:28031000-28034200	Weak transcription	NH-A	brain
12	chr7:28031000-28044800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:28031000-28044800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:28031200-28034600	Enhancers	Brain Substantia Nigra	brain
15	chr7:28031200-28035000	Enhancers	Brain Hippocampus Middle	brain
16	chr7:28031200-28040200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:28031200-28054000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:28031400-28033600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:28031600-28033200	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:28031600-28033600	Enhancers	Adipose Nuclei	Adipose
21	chr7:28031600-28035600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:28031600-28039400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:28031800-28033400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr7:28031800-28035600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr7:28031800-28035800	Enhancers	NHDF-Ad	bronchial
26	chr7:28032000-28045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:28032200-28033400	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:28032400-28033200	Strong transcription	Primary B cells from cord blood	blood
29	chr7:28032400-28033200	Enhancers	Fetal Brain Male	brain
30	chr7:28032400-28033200	Enhancers	Ovary	ovary
31	chr7:28032400-28033400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:28032400-28033400	Enhancers	Psoas Muscle	Psoas
33	chr7:28032400-28033600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:28032400-28034200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:28032400-28036400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:28032600-28033400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:28032600-28035600	Weak transcription	Fetal Stomach	stomach
38	chr7:28032600-28041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:28032800-28033200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:28032800-28033200	Enhancers	Fetal Muscle Leg	muscle
41	chr7:28032800-28034200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:28032800-28039000	Enhancers	Brain Angular Gyrus	brain
43	chr7:28033000-28033200	Enhancers	HMEC	breast
44	chr7:28033000-28033400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:28033000-28033400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:28033000-28033400	Enhancers	Right Atrium	heart
47	chr7:28033000-28033600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:28033000-28033600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:28033000-28034000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:28033000-28035200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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