Variant report

Variant	rs230366
Chromosome Location	chr14:31140202-31140203
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	chr14:31139778..31142183-chr14:31146346..31148580,3	K562	blood:
2	chr14:31139778..31141334-chr14:31146346..31148580,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10130830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10139154	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10142331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10146357	0.81[CHB][hapmap]
rs10147257	0.82[CHB][hapmap]
rs10147505	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1123860	0.82[CHB][hapmap]
rs11625381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627421	0.81[CHB][hapmap]
rs11628700	0.81[CHB][hapmap]
rs11846408	0.81[CHB][hapmap]
rs11846420	0.91[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432098	1.00[YRI][hapmap]
rs12434151	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12882931	0.81[CHB][hapmap]
rs151123	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs170663	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs170665	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17097023	0.80[CHB][hapmap]
rs172946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs179287	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs183467	0.85[EUR][1000 genomes]
rs1950882	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2045180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2070339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2070340	0.81[CHB][hapmap]
rs2273521	0.82[CHB][hapmap]
rs2273522	0.80[CHB][hapmap]
rs229141	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs229143	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs229144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs229145	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs229150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs229154	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229155	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs229156	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229161	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs229162	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs229171	0.85[EUR][1000 genomes]
rs229173	0.87[EUR][1000 genomes]
rs229176	0.87[EUR][1000 genomes]
rs229179	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229184	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229190	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs229194	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229195	0.92[EUR][1000 genomes]
rs229200	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229201	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs229206	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229207	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs229209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229221	0.84[EUR][1000 genomes]
rs229222	0.82[EUR][1000 genomes]
rs229227	0.85[EUR][1000 genomes]
rs229228	0.84[EUR][1000 genomes]
rs229231	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs229235	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs229236	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229237	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229240	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs229243	0.93[EUR][1000 genomes]
rs229247	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs230340	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs230343	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs230351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs230353	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs230356	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs230360	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs230364	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2378780	0.81[CHB][hapmap]
rs2378781	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2378782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34558066	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35069045	0.81[CHB][hapmap]
rs4430662	0.81[CHB][hapmap]
rs448175	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4981767	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4981770	0.84[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs58049	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61976711	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571361	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7141161	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7141333	0.82[CHB][hapmap]
rs7142948	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7144204	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7147530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7152417	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7153509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7153747	0.91[CEU][hapmap]
rs7154847	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7158351	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761956	0.82[CHB][hapmap]
rs8006314	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs8008094	0.81[CHB][hapmap]
rs8012494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8013017	0.82[CHB][hapmap]
rs8015536	0.82[CHB][hapmap]
rs9322864	0.81[CHB][hapmap]
rs9806111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv3369263	chr14:31140043-31140223	Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs230366	SCFD1	cis	Thyroid	GTEx
rs230366	SCFD1	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
3	chr14:31096000-31167400	Weak transcription	Gastric	stomach
4	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
5	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
6	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
9	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:31122600-31141400	Weak transcription	Psoas Muscle	Psoas
12	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
13	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
14	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:31123600-31159800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:31123600-31165400	Weak transcription	Colonic Mucosa	Colon
18	chr14:31124400-31148200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:31124400-31152600	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:31124400-31160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:31125000-31159600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:31125200-31152400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:31125400-31152400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr14:31125400-31160000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:31126200-31151800	Weak transcription	NHLF	lung
28	chr14:31126400-31142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:31126400-31151200	Weak transcription	HMEC	breast
30	chr14:31128200-31142400	Weak transcription	HUVEC	blood vessel
31	chr14:31128200-31144800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:31128200-31152200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:31128200-31152400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:31128200-31164600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:31128200-31165600	Weak transcription	HSMMtube	muscle
36	chr14:31130800-31142800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:31130800-31142800	Weak transcription	Fetal Thymus	thymus
38	chr14:31131600-31151200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:31131800-31144200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:31132200-31148800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:31132400-31160400	Weak transcription	Hela-S3	cervix
42	chr14:31133000-31140800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:31133000-31143000	Weak transcription	Placenta	Placenta
44	chr14:31133200-31160600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:31133400-31140800	Weak transcription	NHEK	skin
46	chr14:31133400-31142800	Weak transcription	Dnd41	blood
47	chr14:31133600-31143000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:31133600-31144800	Weak transcription	Brain Germinal Matrix	brain
49	chr14:31133600-31153000	Weak transcription	Fetal Brain Female	brain
50	chr14:31133800-31140400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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