Variant report

Variant	rs10405635
Chromosome Location	chr19:19207228-19207229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19205430..19208047-chr19:19210402..19213309,3	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1007483	0.94[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10221504	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10403222	0.93[ASN][1000 genomes]
rs10404627	1.00[ASN][1000 genomes]
rs10405189	0.95[ASN][1000 genomes]
rs10409164	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410451	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410568	1.00[ASN][1000 genomes]
rs10414676	0.85[CHB][hapmap]
rs10416783	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10417974	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.96[EUR][1000 genomes]
rs10421019	0.80[EUR][1000 genomes]
rs10422335	0.86[ASN][1000 genomes]
rs10422906	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423742	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423815	0.95[ASN][1000 genomes]
rs1079543	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs10854005	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs1124921	0.95[ASN][1000 genomes]
rs11666120	0.94[ASN][1000 genomes]
rs11666340	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11666627	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670204	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11670239	0.98[ASN][1000 genomes]
rs11729	0.84[EUR][1000 genomes]
rs11878368	0.92[ASN][1000 genomes]
rs12016	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs12975676	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12975754	0.90[ASN][1000 genomes]
rs12976302	0.97[ASN][1000 genomes]
rs12978822	0.85[ASN][1000 genomes]
rs12979565	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs12979841	0.97[EUR][1000 genomes]
rs12985799	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859267	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs2012318	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107263	0.92[ASN][1000 genomes]
rs2158320	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2240094	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs2240095	0.93[ASN][1000 genomes]
rs2269806	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2285851	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2313736	0.92[ASN][1000 genomes]
rs2872394	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs3180770	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4808179	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808184	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808895	0.81[CEU][hapmap]
rs4808902	0.92[ASN][1000 genomes]
rs4808904	0.95[ASN][1000 genomes]
rs4808905	0.95[ASN][1000 genomes]
rs4808906	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4808907	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4808911	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808913	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4808916	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808923	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs6511010	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs6511014	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs6511015	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511017	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511018	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511021	0.85[CHB][hapmap]
rs7248399	0.93[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7248651	0.91[EUR][1000 genomes]
rs7248771	1.00[ASN][1000 genomes]
rs7250131	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253244	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7255937	1.00[ASN][1000 genomes]
rs7256648	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257635	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7258637	0.95[ASN][1000 genomes]
rs7259510	0.95[ASN][1000 genomes]
rs7259609	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756791	0.83[EUR][1000 genomes]
rs756792	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs757220	0.93[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs757221	0.97[EUR][1000 genomes]
rs8101529	0.91[ASN][1000 genomes]
rs8103431	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104799	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs8106146	0.89[CHB][hapmap];0.95[ASN][1000 genomes]
rs8107710	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109654	0.95[ASN][1000 genomes]
rs8110629	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs8111634	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs8111635	0.92[ASN][1000 genomes]
rs8112566	0.93[ASN][1000 genomes]
rs916898	0.95[ASN][1000 genomes]
rs929215	1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs9304959	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9676917	0.94[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	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
2	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10405635	SFRS14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19175400-19207800	Weak transcription	Aorta	Aorta
2	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:19176400-19215800	Weak transcription	NHLF	lung
5	chr19:19176600-19208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:19177000-19210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
8	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:19180400-19207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr19:19180400-19208000	Weak transcription	Brain Angular Gyrus	brain
11	chr19:19180400-19208000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr19:19180400-19208200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
15	chr19:19180600-19208200	Weak transcription	Fetal Lung	lung
16	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:19185400-19208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr19:19185600-19211400	Weak transcription	Pancreas	Pancrea
22	chr19:19186800-19207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:19186800-19215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:19187400-19207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:19188400-19209800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:19192800-19207800	Weak transcription	Adipose Nuclei	Adipose
27	chr19:19194200-19214000	Weak transcription	K562	blood
28	chr19:19194400-19208000	Weak transcription	Left Ventricle	heart
29	chr19:19194600-19229400	Weak transcription	Dnd41	blood
30	chr19:19194800-19207800	Weak transcription	Right Ventricle	heart
31	chr19:19194800-19211400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:19194800-19215400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:19195000-19207800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:19195000-19207800	Weak transcription	Brain Germinal Matrix	brain
35	chr19:19196200-19208000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr19:19197400-19222600	Weak transcription	GM12878-XiMat	blood
37	chr19:19198800-19209000	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:19199000-19216200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:19200800-19215800	Weak transcription	Right Atrium	heart
40	chr19:19201000-19212400	Strong transcription	Primary T cells from cord blood	blood
41	chr19:19201800-19207800	Weak transcription	Primary B cells from cord blood	blood
42	chr19:19201800-19215400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:19201800-19215600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:19202000-19207800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:19202000-19213800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:19203000-19215600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr19:19204800-19210600	Enhancers	Fetal Intestine Large	intestine
49	chr19:19204800-19213800	Strong transcription	Fetal Stomach	stomach
50	chr19:19204800-19214200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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