Variant report

Variant	rs10207970
Chromosome Location	chr2:73744875-73744876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10189578	0.81[EUR][1000 genomes]
rs1083919	0.80[EUR][1000 genomes]
rs10865398	0.81[EUR][1000 genomes]
rs13008860	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6744697	0.80[EUR][1000 genomes]
rs7562047	0.81[EUR][1000 genomes]
rs7585119	0.81[EUR][1000 genomes]
rs7598660	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10207970	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs10207970	TPRKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73713200-73757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:73715600-73751800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:73717400-73757800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:73718000-73746800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:73719400-73747000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:73728200-73747000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:73731600-73759000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:73731800-73746800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:73731800-73752000	Weak transcription	Fetal Heart	heart
10	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
11	chr2:73736400-73761600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:73736800-73747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:73737600-73747400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:73737600-73750600	Weak transcription	Small Intestine	intestine
15	chr2:73738000-73746800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:73738600-73746800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:73738800-73750200	Weak transcription	Stomach Mucosa	stomach
18	chr2:73739400-73756400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:73740000-73747000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:73740600-73746800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:73740600-73747000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:73740600-73747000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:73740800-73747400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:73740800-73752600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:73740800-73752800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:73740800-73753800	Weak transcription	Brain Angular Gyrus	brain
27	chr2:73740800-73757600	Weak transcription	Ovary	ovary
28	chr2:73741000-73747000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:73741000-73747000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:73741000-73748400	Weak transcription	Fetal Lung	lung
31	chr2:73741000-73748800	Weak transcription	Esophagus	oesophagus
32	chr2:73741000-73749200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:73741000-73750200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:73741000-73751000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:73741000-73751800	Weak transcription	Fetal Kidney	kidney
36	chr2:73741000-73752200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:73741000-73752200	Weak transcription	Brain Substantia Nigra	brain
38	chr2:73741000-73752200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:73741000-73752600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:73741000-73755000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:73741000-73755600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:73741000-73756200	Weak transcription	Fetal Intestine Small	intestine
43	chr2:73741000-73756400	Weak transcription	Thymus	Thymus
44	chr2:73741000-73757200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:73741000-73757400	Weak transcription	Aorta	Aorta
46	chr2:73741000-73757400	Weak transcription	Pancreas	Pancrea
47	chr2:73741000-73757600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:73741000-73757800	Weak transcription	Gastric	stomach
49	chr2:73741000-73758800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:73741000-73759400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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