Variant report

Variant	rs4313020
Chromosome Location	chr6:149381227-149381228
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149380842..149383187-chr6:149749461..149751628,2	MCF-7	breast:
2	chr6:149356091..149358662-chr6:149380682..149383777,5	MCF-7	breast:
3	chr6:149347925..149355177-chr6:149378699..149385191,19	MCF-7	breast:
4	chr6:149367003..149368694-chr6:149381006..149384562,3	K562	blood:
5	chr6:149378979..149381253-chr6:149751036..149753374,2	K562	blood:
6	chr6:149376456..149387248-chr6:149393069..149406749,44	MCF-7	breast:
7	chr6:149379587..149381868-chr6:149752319..149755254,2	MCF-7	breast:
8	chr6:149379361..149382289-chr6:149745014..149748004,4	MCF-7	breast:
9	chr6:149376538..149378181-chr6:149380080..149383036,2	K562	blood:
10	chr6:149380086..149382702-chr6:149642964..149645035,2	MCF-7	breast:
11	chr6:149364981..149368017-chr6:149381154..149384452,3	MCF-7	breast:
12	chr6:149345224..149347260-chr6:149380450..149382499,2	MCF-7	breast:
13	chr6:149381088..149383058-chr6:149414648..149416261,2	MCF-7	breast:
14	chr6:149373800..149377779-chr6:149379783..149384195,7	MCF-7	breast:
15	chr6:149380862..149385743-chr6:149637114..149641554,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236591	Chromatin interaction
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10457075	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10457839	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499251	0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12153925	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197040	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12200909	0.95[CEU][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202158	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206419	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316376	0.84[EUR][1000 genomes]
rs13190879	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13217006	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17669546	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890610	0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs1890612	0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs1934221	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1934222	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1934223	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1934227	0.81[CEU][hapmap]
rs2153251	0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2153252	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185250	0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs34118116	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34599887	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3949414	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332004	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4336467	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441968	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454159	0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs6570923	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570924	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570926	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570927	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570932	0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs6901626	0.85[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6902195	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6902487	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6909624	0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6914281	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914318	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6914925	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917010	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6924503	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6930713	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6932773	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940664	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6940915	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7762928	0.95[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7773409	0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs9322165	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485353	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498197	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498199	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498201	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9498202	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9498204	0.85[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9498205	0.86[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9498207	0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][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	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149354400-149400600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:149355800-149381600	Weak transcription	Right Atrium	heart
4	chr6:149359200-149381400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:149359200-149381400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:149359200-149381600	Weak transcription	Ovary	ovary
7	chr6:149359200-149383600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:149362600-149385200	Weak transcription	Aorta	Aorta
9	chr6:149362800-149401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:149363200-149394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:149368200-149381400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:149368200-149381800	Weak transcription	Small Intestine	intestine
13	chr6:149369000-149382000	Weak transcription	NHDF-Ad	bronchial
14	chr6:149369000-149398800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:149371400-149396400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:149371800-149397000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:149375200-149381600	Weak transcription	Left Ventricle	heart
18	chr6:149375800-149384000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:149377000-149381400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:149379000-149381600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr6:149379200-149383400	Enhancers	Fetal Lung	lung
22	chr6:149379200-149385000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:149379400-149384200	Enhancers	Placenta	Placenta
24	chr6:149379400-149388600	Enhancers	Fetal Thymus	thymus
25	chr6:149379600-149381400	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:149379600-149381400	Weak transcription	Esophagus	oesophagus
27	chr6:149379600-149381800	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:149380000-149381800	Weak transcription	Liver	Liver
29	chr6:149380000-149383200	Enhancers	Fetal Kidney	kidney
30	chr6:149380200-149381600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:149380200-149381600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:149380200-149381800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:149380200-149381800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:149380200-149382400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:149380200-149382400	Enhancers	Fetal Muscle Trunk	muscle
36	chr6:149380200-149382800	Enhancers	Fetal Muscle Leg	muscle
37	chr6:149380200-149383000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:149380200-149383000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:149380200-149384000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:149380200-149386000	Enhancers	HSMMtube	muscle
41	chr6:149380400-149381400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr6:149380400-149381400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:149380400-149381400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr6:149380400-149381400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr6:149380400-149381600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:149380400-149381600	Enhancers	Colonic Mucosa	Colon
47	chr6:149380400-149381600	Weak transcription	Lung	lung
48	chr6:149380400-149381800	Weak transcription	Fetal Heart	heart
49	chr6:149380400-149382000	Enhancers	A549	lung
50	chr6:149380400-149382600	Enhancers	Muscle Satellite Cultured Cells	--

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