Variant report

Variant	rs4655661
Chromosome Location	chr1:67408828-67408829
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67404224..67406343-chr1:67407940..67409910,2	K562	blood:
2	chr1:67404451..67406130-chr1:67406945..67409077,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10749766	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789219	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889651	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1118392	0.89[EUR][1000 genomes]
rs11208971	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208973	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11208974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1121824	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12562761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12742428	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535365	0.84[EUR][1000 genomes]
rs1570838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925409	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925410	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065002	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755241	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755242	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755243	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755251	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2755253	0.80[ASN][1000 genomes]
rs2755254	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755266	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2755270	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2755271	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815349	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815355	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2815360	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815362	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815363	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815364	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815365	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815366	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815367	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2815368	0.83[EUR][1000 genomes]
rs2815374	0.84[AMR][1000 genomes]
rs3736905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3929738	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486425	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4570393	0.85[EUR][1000 genomes]
rs4581250	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4582760	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4655660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655662	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657065	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4655661	SLC35D1	Cis_1M	lymphoblastoid	RTeQTL
rs4655661	MIER1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
2	chr1:67396800-67411200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:67396800-67414400	Weak transcription	Lung	lung
4	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
5	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
7	chr1:67397000-67409200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:67397600-67411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:67397600-67411200	Weak transcription	Placenta	Placenta
10	chr1:67397600-67411200	Weak transcription	Fetal Stomach	stomach
11	chr1:67397600-67413000	Weak transcription	Fetal Brain Female	brain
12	chr1:67397600-67413000	Weak transcription	Fetal Kidney	kidney
13	chr1:67397600-67416600	Weak transcription	Right Ventricle	heart
14	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
15	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:67397800-67412400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:67397800-67412400	Weak transcription	Brain Germinal Matrix	brain
18	chr1:67398400-67412200	Weak transcription	Fetal Brain Male	brain
19	chr1:67398400-67414000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:67398600-67411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:67399000-67416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:67399800-67409200	Weak transcription	Fetal Heart	heart
23	chr1:67399800-67411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:67400000-67411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:67400200-67410200	Weak transcription	HSMMtube	muscle
26	chr1:67400400-67409800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:67400400-67410600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:67400400-67413200	Weak transcription	Brain Substantia Nigra	brain
29	chr1:67400400-67413200	Weak transcription	Fetal Lung	lung
30	chr1:67400600-67409200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:67400600-67409200	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:67400600-67409400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
34	chr1:67400800-67409200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:67400800-67413200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:67401200-67413200	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:67401400-67409200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:67401400-67412200	Weak transcription	Brain Anterior Caudate	brain
39	chr1:67401600-67410200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:67402800-67409000	Enhancers	Primary T cells from cord blood	blood
41	chr1:67403200-67412600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:67403200-67412600	Weak transcription	Psoas Muscle	Psoas
43	chr1:67403200-67419800	Weak transcription	Gastric	stomach
44	chr1:67403200-67429400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:67403400-67412600	Weak transcription	Left Ventricle	heart
46	chr1:67403800-67410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:67403800-67412200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:67404000-67409400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:67404400-67411000	Weak transcription	Thymus	Thymus
50	chr1:67404800-67409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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