Variant report

Variant	rs10993460
Chromosome Location	chr9:97795176-97795177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97786821..97789606-chr9:97794967..97796572,3	K562	blood:
2	chr9:97794089..97795756-chr9:97801437..97804399,2	K562	blood:
3	chr9:97793038..97795418-chr9:97797884..97800566,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIATL1-7	chr9:97794314-97795781	ENSG00000251631
2	lnc-FANCC-3	chr9:97794312-97795781	NONHSAT133343

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10821433	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10993456	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993457	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12339639	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12344584	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12346261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7046845	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72621414	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97770800-97810000	Weak transcription	Primary T cells from cord blood	blood
2	chr9:97787800-97795800	Genic enhancers	Osteobl	bone
3	chr9:97788400-97795800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:97788800-97795800	Enhancers	Psoas Muscle	Psoas
5	chr9:97789000-97806200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:97790000-97795800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:97790000-97796800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:97790200-97795600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:97790200-97795800	Enhancers	Right Atrium	heart
10	chr9:97790200-97796000	Enhancers	Brain Angular Gyrus	brain
11	chr9:97790200-97796400	Genic enhancers	HSMM	muscle
12	chr9:97790600-97795800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:97790800-97795600	Genic enhancers	Fetal Intestine Small	intestine
14	chr9:97791200-97795600	Genic enhancers	Liver	Liver
15	chr9:97791200-97795800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:97791400-97795800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:97791600-97799600	Weak transcription	Hela-S3	cervix
18	chr9:97791600-97800000	Weak transcription	Placenta	Placenta
19	chr9:97791800-97795400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr9:97792600-97795800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr9:97792800-97795600	Genic enhancers	Fetal Stomach	stomach
22	chr9:97792800-97795600	Enhancers	Right Ventricle	heart
23	chr9:97792800-97795800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr9:97792800-97795800	Enhancers	Stomach Mucosa	stomach
25	chr9:97793000-97795800	Enhancers	Brain Cingulate Gyrus	brain
26	chr9:97793000-97795800	Enhancers	Pancreas	Pancrea
27	chr9:97793000-97796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:97793000-97797200	Enhancers	Brain Substantia Nigra	brain
29	chr9:97793000-97800000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:97793200-97795400	Genic enhancers	Fetal Muscle Leg	muscle
31	chr9:97793200-97795800	Genic enhancers	HSMMtube	muscle
32	chr9:97793200-97796000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:97793200-97802200	Weak transcription	Fetal Kidney	kidney
34	chr9:97793400-97810400	Weak transcription	HUVEC	blood vessel
35	chr9:97793600-97795200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:97793600-97795600	Enhancers	Primary hematopoietic stem cells	blood
37	chr9:97793600-97795600	Enhancers	Fetal Intestine Large	intestine
38	chr9:97793600-97798200	Weak transcription	NHDF-Ad	bronchial
39	chr9:97793800-97795400	Enhancers	NHEK	skin
40	chr9:97793800-97795600	Enhancers	Duodenum Mucosa	Duodenum
41	chr9:97793800-97795600	Enhancers	Lung	lung
42	chr9:97793800-97795600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr9:97793800-97795800	Enhancers	Brain Anterior Caudate	brain
44	chr9:97793800-97795800	Enhancers	Esophagus	oesophagus
45	chr9:97793800-97795800	Enhancers	Small Intestine	intestine
46	chr9:97793800-97800000	Weak transcription	Adipose Nuclei	Adipose
47	chr9:97794000-97795600	Enhancers	Spleen	Spleen
48	chr9:97794000-97796800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:97794000-97799800	Weak transcription	Fetal Lung	lung
50	chr9:97794200-97795200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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