Variant report

Variant	rs12435835
Chromosome Location	chr14:65499909-65499910
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65496179..65497827-chr14:65497878..65500125,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11620955	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627531	1.00[CEU][hapmap];0.96[CHB][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11628273	1.00[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12587257	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4466998	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4586342	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4605081	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4899159	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148590	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7155275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7155454	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs726668	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8006419	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8012008	0.82[AMR][1000 genomes];0.85[EUR][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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12435835	CHURC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65454800-65513800	Weak transcription	Stomach Mucosa	stomach
2	chr14:65459400-65508000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:65473400-65501400	Weak transcription	NHLF	lung
7	chr14:65473800-65513800	Weak transcription	HMEC	breast
8	chr14:65475200-65509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:65475800-65501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:65480000-65507400	Weak transcription	Gastric	stomach
11	chr14:65480800-65507400	Weak transcription	Hela-S3	cervix
12	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:65483600-65501400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:65487400-65505800	Weak transcription	HSMMtube	muscle
15	chr14:65488400-65502800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:65489000-65507600	Weak transcription	Lung	lung
17	chr14:65489200-65514000	Weak transcription	Small Intestine	intestine
18	chr14:65489600-65501400	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:65491600-65502400	Strong transcription	Primary T cells from cord blood	blood
20	chr14:65491800-65501400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:65492600-65500400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr14:65492800-65501000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:65492800-65505000	Strong transcription	Fetal Stomach	stomach
24	chr14:65493000-65501600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:65493000-65521400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:65493200-65501800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:65493400-65500200	Strong transcription	Fetal Thymus	thymus
28	chr14:65493400-65508200	Weak transcription	Colonic Mucosa	Colon
29	chr14:65493600-65501800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:65493800-65500400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:65494000-65500400	Strong transcription	Fetal Brain Female	brain
32	chr14:65494200-65500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:65494200-65501000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:65494200-65502200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:65494400-65500000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:65494600-65507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:65494600-65507600	Weak transcription	Right Ventricle	heart
38	chr14:65494800-65501600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:65494800-65507600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:65495000-65507200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr14:65496000-65507600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:65496200-65507400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:65496400-65502800	Strong transcription	Fetal Intestine Large	intestine
44	chr14:65496400-65513000	Strong transcription	Fetal Intestine Small	intestine
45	chr14:65496400-65515400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:65496800-65521200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:65497000-65501400	Weak transcription	K562	blood
48	chr14:65497200-65501400	Weak transcription	Brain Angular Gyrus	brain
49	chr14:65497200-65501400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:65497200-65502200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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