Variant report

Variant	rs998313
Chromosome Location	chr6:143176215-143176216
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143171301..143176697-chr6:143264648..143267813,7	MCF-7	breast:
2	chr6:143173616..143176330-chr6:143177113..143179367,3	MCF-7	breast:
3	chr6:143175982..143177765-chr6:143180458..143183206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010818	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11155265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969311	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12190015	0.88[ASN][1000 genomes]
rs12190804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194338	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12194808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199711	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12201734	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12201987	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12203708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208876	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210301	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214573	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17444447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs198661	0.86[EUR][1000 genomes]
rs2142938	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2184364	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349826	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4492208	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62430707	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62430709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62430713	0.95[EUR][1000 genomes]
rs62432360	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62432362	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6905453	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6910072	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6912129	0.84[AMR][1000 genomes]
rs6925118	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927858	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72990282	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72995085	0.88[EUR][1000 genomes]
rs7758383	0.89[ASN][1000 genomes]
rs972119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143167200-143177000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:143167800-143176600	Enhancers	Primary T cells from cord blood	blood
3	chr6:143168400-143177400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:143168400-143177600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:143168400-143178600	Weak transcription	Fetal Stomach	stomach
6	chr6:143168400-143179000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:143168400-143179400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
9	chr6:143169200-143178600	Weak transcription	Fetal Brain Female	brain
10	chr6:143172000-143179400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:143172200-143176800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:143172800-143177000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:143173200-143178000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:143173200-143182400	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:143173200-143188600	Weak transcription	Fetal Intestine Small	intestine
16	chr6:143173400-143179600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:143173600-143177800	Enhancers	HSMMtube	muscle
18	chr6:143173600-143188200	Weak transcription	NHLF	lung
19	chr6:143173800-143176400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:143173800-143179600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr6:143174200-143176400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:143174200-143176600	Enhancers	Fetal Muscle Leg	muscle
23	chr6:143174200-143176600	Enhancers	Placenta	Placenta
24	chr6:143174200-143176600	Enhancers	Fetal Thymus	thymus
25	chr6:143174200-143177000	Enhancers	Primary B cells from peripheral blood	blood
26	chr6:143174200-143179600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:143174400-143176600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:143174400-143176600	Enhancers	Left Ventricle	heart
29	chr6:143174400-143176600	Enhancers	Lung	lung
30	chr6:143174400-143176600	Enhancers	Psoas Muscle	Psoas
31	chr6:143174400-143176600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr6:143174400-143177600	Enhancers	Thymus	Thymus
33	chr6:143174400-143178000	Enhancers	Brain Angular Gyrus	brain
34	chr6:143174400-143178000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:143174400-143178200	Enhancers	Brain Hippocampus Middle	brain
36	chr6:143174400-143179600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:143174600-143176600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:143174600-143176600	Enhancers	NHDF-Ad	bronchial
39	chr6:143174600-143177600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:143174600-143178000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:143174800-143176600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:143174800-143176600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:143174800-143176600	Enhancers	Esophagus	oesophagus
44	chr6:143174800-143176800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:143174800-143176800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr6:143174800-143177200	Enhancers	HSMM	muscle
47	chr6:143174800-143179000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:143175200-143176400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:143175200-143177000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:143175200-143178200	Enhancers	HUES48 Cell Line	embryonic stem cell

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