Variant report

Variant	rs363074
Chromosome Location	chr4:3141651-3141652
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	chr4:3108221..3121308-chr4:3131274..3142057,27	MCF-7	breast:
2	chr4:3138031..3139753-chr4:3139780..3142675,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1065745	0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16843803	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16843824	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17780617	1.00[EUR][1000 genomes]
rs3025849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3025851	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095076	1.00[ASN][1000 genomes]
rs34591077	1.00[EUR][1000 genomes]
rs363065	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs363067	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs363068	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs363069	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs363070	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs363071	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs363078	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs363084	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs363087	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs363089	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs363090	1.00[ASN][1000 genomes]
rs363091	1.00[ASN][1000 genomes]
rs363101	1.00[ASN][1000 genomes]
rs363102	1.00[ASN][1000 genomes]
rs363103	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs363104	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs363105	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs363124	1.00[ASN][1000 genomes]
rs363125	1.00[ASN][1000 genomes]
rs57196404	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61460614	0.87[AFR][1000 genomes]
rs61583241	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792472	1.00[EUR][1000 genomes]
rs61792500	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792501	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792502	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792503	1.00[EUR][1000 genomes]
rs61792505	1.00[EUR][1000 genomes]
rs61792507	1.00[EUR][1000 genomes]
rs61792508	1.00[EUR][1000 genomes]
rs61792509	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792510	0.96[AFR][1000 genomes]
rs61792513	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61792531	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792532	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61792535	1.00[ASN][1000 genomes]
rs6829069	1.00[ASN][1000 genomes]
rs6839081	1.00[ASN][1000 genomes]
rs73073018	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7682324	0.93[AFR][1000 genomes]
rs7692292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3088200-3164200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr4:3097200-3143400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:3097200-3162200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:3097400-3163800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:3098000-3162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:3100000-3159400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:3106400-3145000	Strong transcription	Dnd41	blood
8	chr4:3108600-3163000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:3108800-3164600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:3109200-3142600	Strong transcription	GM12878-XiMat	blood
11	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
12	chr4:3114800-3162800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:3115800-3143400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:3115800-3161600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:3115800-3162800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:3125200-3163000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:3125200-3163200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:3125400-3145000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:3126000-3144000	Strong transcription	Left Ventricle	heart
20	chr4:3126800-3164400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:3127000-3144800	Strong transcription	Primary B cells from cord blood	blood
22	chr4:3127000-3164400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:3127200-3144800	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr4:3127200-3145000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:3127200-3145200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:3127200-3145400	Strong transcription	Fetal Thymus	thymus
27	chr4:3127200-3146800	Strong transcription	Fetal Stomach	stomach
28	chr4:3127200-3152600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr4:3127200-3157200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:3127200-3163400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:3127200-3163400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:3127200-3163400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr4:3127200-3163600	Strong transcription	Fetal Intestine Large	intestine
34	chr4:3127200-3164200	Strong transcription	Fetal Muscle Leg	muscle
35	chr4:3127200-3164400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:3127400-3143200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:3127400-3143200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr4:3127400-3145800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:3130800-3148200	Weak transcription	Small Intestine	intestine
40	chr4:3131200-3162600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:3131600-3146800	Strong transcription	Fetal Intestine Small	intestine
42	chr4:3131800-3144200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:3132400-3145000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:3133200-3142000	Weak transcription	Fetal Brain Male	brain
45	chr4:3133400-3155000	Weak transcription	Fetal Heart	heart
46	chr4:3134600-3148400	Weak transcription	Psoas Muscle	Psoas
47	chr4:3134600-3148600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:3134800-3142000	Weak transcription	Aorta	Aorta
49	chr4:3134800-3142000	Weak transcription	Brain Substantia Nigra	brain
50	chr4:3134800-3162000	Weak transcription	Hela-S3	cervix

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