Variant report

Variant	rs4636843
Chromosome Location	chr14:67730600-67730601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67729051..67730762-chr14:67734620..67736969,2	MCF-7	breast:
2	chr14:67707520..67709674-chr14:67729188..67732001,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072415	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs1006595	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10131984	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10132093	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10136622	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10138755	0.83[CHB][hapmap]
rs10138850	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10138865	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10138952	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10140817	0.80[CHB][hapmap]
rs10141180	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs10141692	0.81[ASN][1000 genomes]
rs10141879	0.81[JPT][hapmap]
rs10141947	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10144090	0.85[CHB][hapmap]
rs10144122	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10145508	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10145511	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10145586	0.86[CHB][hapmap]
rs10147362	0.96[EUR][1000 genomes]
rs10147852	0.85[CHB][hapmap]
rs10149600	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10149615	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150082	0.83[EUR][1000 genomes]
rs10150145	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10151464	0.80[CHB][hapmap]
rs10431718	0.81[CHB][hapmap]
rs1044745	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10459453	0.86[CHB][hapmap]
rs1073605	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1073607	0.85[CHB][hapmap]
rs1078194	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10873200	0.81[CHB][hapmap]
rs11158653	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11158655	0.81[CHB][hapmap]
rs11158658	0.86[CHB][hapmap]
rs12323494	0.85[CHB][hapmap]
rs12323911	0.85[CHB][hapmap]
rs12586552	0.84[CHB][hapmap]
rs12588292	0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12588458	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs12589091	0.85[CHB][hapmap]
rs12589218	0.86[CHB][hapmap]
rs12590065	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12590689	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12590956	0.81[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1318914	0.86[CHB][hapmap]
rs1473732	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1535491	0.85[CHB][hapmap]
rs17104103	0.81[CHB][hapmap]
rs17104106	0.81[CHB][hapmap]
rs17104109	0.81[CHB][hapmap]
rs17104114	0.91[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs17104202	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17248252	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17248526	0.85[CHB][hapmap]
rs1885589	0.80[CHB][hapmap]
rs1885590	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1918483	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2031564	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2039055	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2057396	0.80[CHB][hapmap]
rs2094162	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2146230	0.85[CHB][hapmap]
rs2236333	0.80[CHB][hapmap]
rs2281676	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2296561	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2319777	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28521373	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28718312	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3784078	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3784085	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs3844530	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143909	0.82[JPT][hapmap]
rs57154550	0.81[ASN][1000 genomes]
rs59472119	0.81[ASN][1000 genomes]
rs60505324	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61612119	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6573747	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6573748	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573752	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6573758	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6573760	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6573763	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs6573765	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573768	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573769	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7141519	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7147207	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7148044	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7148425	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7149535	0.86[CHB][hapmap]
rs7151898	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7153725	0.95[JPT][hapmap]
rs7154607	0.90[JPT][hapmap]
rs7156119	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7157394	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7157418	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7158228	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7161664	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73279056	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73280987	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73282707	0.83[ASN][1000 genomes]
rs73284892	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7493580	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs764039	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs8003327	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8003929	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8004148	0.83[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs8004488	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8004798	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8005876	0.95[JPT][hapmap]
rs8005981	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8006042	0.85[JPT][hapmap]
rs8006519	0.86[JPT][hapmap]
rs8007696	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8007866	0.80[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs8008236	0.86[CHB][hapmap]
rs8008443	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs8009087	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8009318	0.81[CHB][hapmap]
rs8010261	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8015641	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs8015819	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015862	0.86[CHB][hapmap]
rs8016024	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs8016037	0.85[CHB][hapmap]
rs8019510	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8020850	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs8021098	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8021992	0.95[ASN][1000 genomes]
rs9323490	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9323491	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9323492	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9323493	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9323497	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs960797	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs9743911	0.86[CHB][hapmap]
rs9743912	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9743983	0.95[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
6	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1040257	chr14:67634585-67762806	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4636843	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs4636843	EIF2S1	cis	multi-tissue	Pritchard

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67708800-67730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:67709000-67740600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:67709800-67733600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr14:67709800-67737800	Weak transcription	Primary T cells from cord blood	blood
5	chr14:67709800-67746000	Weak transcription	Primary B cells from cord blood	blood
6	chr14:67710600-67735000	Weak transcription	Placenta	Placenta
7	chr14:67712200-67734400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:67714400-67735000	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:67718800-67734000	Weak transcription	NHEK	skin
10	chr14:67718800-67734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:67718800-67735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:67719200-67733600	Weak transcription	Left Ventricle	heart
13	chr14:67719400-67732000	Weak transcription	Gastric	stomach
14	chr14:67719400-67734400	Weak transcription	HSMMtube	muscle
15	chr14:67719400-67735200	Weak transcription	Lung	lung
16	chr14:67719400-67735200	Weak transcription	Psoas Muscle	Psoas
17	chr14:67719400-67735600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:67719800-67734400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:67720000-67732000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:67720400-67734400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:67720600-67733600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:67720600-67734400	Weak transcription	GM12878-XiMat	blood
23	chr14:67720600-67734400	Weak transcription	HMEC	breast
24	chr14:67721200-67735200	Weak transcription	Colonic Mucosa	Colon
25	chr14:67721400-67735200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr14:67721400-67735600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr14:67721400-67737600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
29	chr14:67721600-67735200	Weak transcription	Fetal Intestine Large	intestine
30	chr14:67724200-67734400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:67725400-67735200	Weak transcription	Esophagus	oesophagus
32	chr14:67725600-67734800	Weak transcription	HSMM	muscle
33	chr14:67726400-67733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:67726600-67732000	Weak transcription	Fetal Intestine Small	intestine
35	chr14:67727400-67730600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:67727600-67730800	Enhancers	Fetal Heart	heart
37	chr14:67727800-67734200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:67727800-67738000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:67728400-67730600	Enhancers	Brain Angular Gyrus	brain
40	chr14:67728400-67730800	Enhancers	Brain Anterior Caudate	brain
41	chr14:67728800-67734000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:67728800-67735000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:67728800-67735000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:67729000-67730600	Enhancers	Brain Substantia Nigra	brain
45	chr14:67729200-67730600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr14:67729200-67730600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:67729200-67730600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr14:67729200-67732200	Enhancers	Fetal Lung	lung
49	chr14:67729400-67730600	Enhancers	Brain Hippocampus Middle	brain
50	chr14:67729400-67734200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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