Variant report

Variant	rs10231605
Chromosome Location	chr7:39821796-39821797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10240817	0.89[ASN][1000 genomes]
rs12111962	0.87[ASN][1000 genomes]
rs13233709	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1811208	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1812038	0.89[ASN][1000 genomes]
rs1964239	0.87[ASN][1000 genomes]
rs2008803	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34326443	0.94[ASN][1000 genomes]
rs34917509	0.81[ASN][1000 genomes]
rs3873649	1.00[ASN][1000 genomes]
rs4723903	0.82[ASN][1000 genomes]
rs6462946	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6462948	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462949	0.81[ASN][1000 genomes]
rs71536648	0.98[ASN][1000 genomes]
rs71536651	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73379510	0.97[ASN][1000 genomes]
rs9690392	0.89[ASN][1000 genomes]
rs9769590	0.98[ASN][1000 genomes]
rs9770199	0.93[ASN][1000 genomes]
rs9770818	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv970820	chr7:39797964-39839303	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3348232	chr7:39810724-39822505	Weak transcription Strong transcription Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv5708	chr7:39814330-39855535	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3358415	chr7:39819077-39826275	Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3446871	chr7:39819477-39826200	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv981627	chr7:39819869-39837441	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3434463	chr7:39820009-39825283	Strong transcription Weak transcription Genic enhancers Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv499730	chr7:39820097-39825207	Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
3	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:39794600-39830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:39795400-39833400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:39798200-39831000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:39798400-39830800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:39801600-39831600	Weak transcription	Gastric	stomach
9	chr7:39801600-39833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:39801800-39831000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:39801800-39831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:39802000-39830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:39802000-39835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:39802600-39833000	Weak transcription	Dnd41	blood
15	chr7:39802800-39830800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:39802800-39835000	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:39803000-39824400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:39803400-39832000	Weak transcription	Fetal Thymus	thymus
19	chr7:39805200-39834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:39805400-39831000	Weak transcription	Fetal Brain Female	brain
21	chr7:39805600-39823400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:39806000-39822800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr7:39807400-39830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:39807800-39830800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:39807800-39830800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:39807800-39830800	Weak transcription	Thymus	Thymus
27	chr7:39807800-39832800	Weak transcription	Brain Anterior Caudate	brain
28	chr7:39808200-39833000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:39808200-39833800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:39808400-39832800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:39808400-39833200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:39809400-39830800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:39810200-39831400	Weak transcription	Lung	lung
34	chr7:39810600-39837200	Weak transcription	Brain Substantia Nigra	brain
35	chr7:39811000-39835800	Weak transcription	Brain Germinal Matrix	brain
36	chr7:39811200-39831000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:39811400-39828800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:39811400-39830800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:39812200-39823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:39812400-39830200	Weak transcription	Aorta	Aorta
41	chr7:39812400-39830800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:39812400-39837400	Weak transcription	Fetal Intestine Large	intestine
43	chr7:39812400-39837600	Weak transcription	Spleen	Spleen
44	chr7:39813000-39822400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr7:39819800-39825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:39820200-39822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:39820200-39824000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:39820200-39830800	Weak transcription	Primary T cells from cord blood	blood
49	chr7:39820400-39822000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:39820400-39822000	Strong transcription	Duodenum Mucosa	Duodenum

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