Variant report

Variant	rs30618
Chromosome Location	chr5:14272936-14272937
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14143084..14145343-chr5:14271406..14275667,4	MCF-7	breast:
2	chr5:14263429..14265117-chr5:14272580..14275150,2	K562	blood:
3	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12659261	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs154150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs154153	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs154154	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs154155	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs164859	0.82[CHB][hapmap]
rs164860	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs164862	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs164863	0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs165083	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs165094	0.82[CHB][hapmap]
rs165095	0.90[JPT][hapmap]
rs16903326	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16903338	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2440982	0.82[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs247142	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs247144	0.85[AFR][1000 genomes]
rs30603	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs30604	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs30605	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs30621	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs30626	0.84[ASN][1000 genomes]
rs30627	0.82[ASN][1000 genomes]
rs30628	0.90[JPT][hapmap]
rs30629	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs30630	0.84[ASN][1000 genomes]
rs30631	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs30783	1.00[YRI][hapmap]
rs32549	0.81[JPT][hapmap]
rs354303	0.82[CHB][hapmap]
rs356026	0.84[ASN][1000 genomes]
rs356027	0.84[ASN][1000 genomes]
rs356028	0.82[ASN][1000 genomes]
rs356029	0.82[ASN][1000 genomes]
rs39857	1.00[YRI][hapmap]
rs42204	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs42253	0.81[ASN][1000 genomes]
rs42405	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs42551	0.83[CEU][hapmap]
rs56226439	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67084079	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72744279	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7380307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7700787	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:14265400-14277200	Weak transcription	Thymus	Thymus
3	chr5:14265400-14284600	Weak transcription	Stomach Mucosa	stomach
4	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:14268600-14291000	Weak transcription	Fetal Kidney	kidney
6	chr5:14269200-14280000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:14269200-14286400	Weak transcription	Pancreas	Pancrea
8	chr5:14269200-14286600	Weak transcription	Spleen	Spleen
9	chr5:14269400-14273800	Genic enhancers	HSMM	muscle
10	chr5:14270200-14290800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:14270400-14273600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:14270400-14276200	Weak transcription	Psoas Muscle	Psoas
13	chr5:14270400-14276400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:14270400-14276400	Weak transcription	Left Ventricle	heart
15	chr5:14270400-14277600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:14270400-14278200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:14270400-14279800	Weak transcription	Ovary	ovary
18	chr5:14270400-14280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:14270400-14280400	Weak transcription	Placenta	Placenta
20	chr5:14270400-14280400	Weak transcription	Fetal Thymus	thymus
21	chr5:14270400-14280600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr5:14270400-14280600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:14270400-14280600	Weak transcription	Lung	lung
24	chr5:14270400-14283200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:14270400-14284400	Weak transcription	Colonic Mucosa	Colon
26	chr5:14270400-14284600	Weak transcription	Brain Germinal Matrix	brain
27	chr5:14270400-14284800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:14270400-14284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:14270400-14286400	Weak transcription	Fetal Intestine Small	intestine
30	chr5:14270400-14286800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:14270400-14288800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:14270400-14289400	Weak transcription	Gastric	stomach
33	chr5:14270400-14293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
36	chr5:14270600-14274600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:14270600-14279800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:14270800-14274600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:14270800-14276200	Weak transcription	Brain Anterior Caudate	brain
40	chr5:14270800-14276200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:14270800-14276600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:14270800-14276800	Weak transcription	Fetal Brain Female	brain
43	chr5:14270800-14277400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:14270800-14279800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:14270800-14280200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:14270800-14280200	Weak transcription	Fetal Lung	lung
47	chr5:14270800-14280200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:14270800-14280400	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:14270800-14280600	Weak transcription	Fetal Intestine Large	intestine
50	chr5:14270800-14281400	Weak transcription	Fetal Stomach	stomach

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