Variant report

Variant	rs35854151
Chromosome Location	chr2:172657439-172657440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172657341..172659183-chr2:172664680..172667470,2	K562	blood:
2	chr2:172653773..172656691-chr2:172656792..172659736,2	K562	blood:
3	chr2:172656554..172659415-chr2:172948185..172950297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction
ENSG00000144355	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1028127	0.87[EUR][1000 genomes]
rs10930491	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11690807	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12052995	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12997093	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12998411	0.87[EUR][1000 genomes]
rs1607254	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17581284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17614941	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271758	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292816	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34242651	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34531723	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3770458	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4510184	0.85[AMR][1000 genomes]
rs59844139	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62184165	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6723259	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9789538	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35854151	AC068039.4	cis	Thyroid	GTEx
rs35854151	AC068039.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172640200-172662800	Weak transcription	Fetal Brain Male	brain
3	chr2:172640400-172668000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:172641600-172666400	Weak transcription	Fetal Kidney	kidney
5	chr2:172642200-172663600	Weak transcription	K562	blood
6	chr2:172642200-172665800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
9	chr2:172643800-172674600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:172644000-172667000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:172644200-172666600	Weak transcription	Placenta	Placenta
12	chr2:172644400-172666000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
14	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
15	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
16	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:172648200-172666000	Weak transcription	Fetal Brain Female	brain
18	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
21	chr2:172648400-172671000	Weak transcription	Psoas Muscle	Psoas
22	chr2:172648400-172671200	Weak transcription	Right Ventricle	heart
23	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
26	chr2:172649000-172687400	Weak transcription	Gastric	stomach
27	chr2:172649200-172682000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:172650200-172662400	Weak transcription	Ovary	ovary
29	chr2:172650400-172661000	Weak transcription	Fetal Stomach	stomach
30	chr2:172650400-172665600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:172650400-172666000	Weak transcription	GM12878-XiMat	blood
32	chr2:172650400-172666600	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:172650400-172671200	Weak transcription	Adipose Nuclei	Adipose
34	chr2:172650400-172671400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:172650400-172680200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:172650400-172681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:172650400-172687600	Weak transcription	Lung	lung
39	chr2:172650600-172663200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:172650600-172669800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:172650800-172659400	Weak transcription	Primary B cells from cord blood	blood
42	chr2:172651000-172661200	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:172651000-172664200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:172651800-172662200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:172651800-172664200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:172651800-172682000	Weak transcription	Fetal Thymus	thymus
47	chr2:172652000-172666800	Weak transcription	Brain Germinal Matrix	brain
48	chr2:172652400-172663200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:172652400-172664400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart

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