Variant report

Variant	rs2149031
Chromosome Location	chr1:70800401-70800402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70799533..70801212-chr1:70816344..70819008,2	K562	blood:
2	chr1:70798378..70801326-chr1:70805359..70808008,3	K562	blood:
3	chr1:70794744..70797990-chr1:70798534..70802475,3	K562	blood:
4	chr1:70799977..70802137-chr1:70803944..70806998,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11801641	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4650037	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs487773	0.80[EUR][1000 genomes]
rs531880	0.83[EUR][1000 genomes]
rs540003	0.81[EUR][1000 genomes]
rs6424385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828350	0.84[EUR][1000 genomes]
rs828351	0.85[EUR][1000 genomes]
rs828352	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1012563	chr1:70753332-70832118	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1792702	chr1:70755511-70818576	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1801665	chr1:70755511-70832053	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv871430	chr1:70765659-70819912	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2149031	CTH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:70757400-70813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:70757800-70812400	Weak transcription	Fetal Brain Male	brain
6	chr1:70760400-70802400	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:70760400-70813200	Weak transcription	Fetal Brain Female	brain
8	chr1:70760600-70818200	Weak transcription	Aorta	Aorta
9	chr1:70760600-70818600	Weak transcription	Thymus	Thymus
10	chr1:70762000-70817600	Weak transcription	NHLF	lung
11	chr1:70762200-70818200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:70765600-70818200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:70765800-70812200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:70767800-70819000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:70768200-70817000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:70770400-70809200	Weak transcription	Ovary	ovary
17	chr1:70770400-70817200	Weak transcription	Pancreas	Pancrea
18	chr1:70773600-70818200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:70773800-70818200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:70774200-70815200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:70774200-70818000	Weak transcription	Fetal Kidney	kidney
22	chr1:70781200-70805400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:70781400-70803600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:70783800-70809000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:70784200-70813200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:70784200-70817400	Weak transcription	Small Intestine	intestine
27	chr1:70786200-70808600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:70786400-70804000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:70786800-70802000	Weak transcription	HUVEC	blood vessel
30	chr1:70787400-70817600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:70788600-70813200	Weak transcription	GM12878-XiMat	blood
32	chr1:70788600-70818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:70789000-70813000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:70789000-70813200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:70789000-70816000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:70789200-70803400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:70789200-70818200	Weak transcription	Right Atrium	heart
38	chr1:70790200-70813000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:70790400-70812200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:70790600-70802800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:70790600-70804600	Weak transcription	Liver	Liver
42	chr1:70790600-70813000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:70790600-70815400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:70790600-70816400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:70790600-70818000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:70790600-70818400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:70793400-70802200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:70793400-70802600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:70793600-70818000	Weak transcription	NH-A	brain
50	chr1:70793800-70813200	Weak transcription	Gastric	stomach

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