Variant report

Variant	rs7748936
Chromosome Location	chr6:114281637-114281638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:114279778..114281819-chr6:114290954..114293295,2	MCF-7	breast:
2	chr6:114275676..114278562-chr6:114280811..114282890,3	MCF-7	breast:
3	chr6:114269254..114272117-chr6:114281420..114283329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196591	Chromatin interaction
ENSG00000228624	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11758632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17792118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169506	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2475623	1.00[CHB][hapmap]
rs2475624	1.00[CHB][hapmap]
rs2499612	1.00[CHB][hapmap]
rs35598148	0.92[EUR][1000 genomes]
rs62415876	0.87[ASN][1000 genomes]
rs62415904	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62415906	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62415909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415914	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415915	1.00[ASN][1000 genomes]
rs62415916	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62415923	1.00[ASN][1000 genomes]
rs73548638	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744487	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488293	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488294	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114253000-114289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:114253400-114290600	Weak transcription	Aorta	Aorta
3	chr6:114254600-114281800	Strong transcription	Dnd41	blood
4	chr6:114258600-114282600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:114258600-114291000	Weak transcription	Lung	lung
6	chr6:114258800-114285600	Weak transcription	Right Ventricle	heart
7	chr6:114258800-114289800	Weak transcription	Spleen	Spleen
8	chr6:114259000-114289200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:114264800-114289800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:114265600-114282000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:114266000-114283800	Weak transcription	Colonic Mucosa	Colon
12	chr6:114266000-114289600	Weak transcription	Esophagus	oesophagus
13	chr6:114266200-114285600	Weak transcription	Psoas Muscle	Psoas
14	chr6:114266400-114285600	Weak transcription	Small Intestine	intestine
15	chr6:114266400-114289800	Weak transcription	Pancreas	Pancrea
16	chr6:114267400-114282200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:114267400-114286200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:114267400-114287200	Weak transcription	Fetal Brain Male	brain
19	chr6:114267400-114288800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:114267400-114289000	Weak transcription	Brain Angular Gyrus	brain
21	chr6:114267400-114289200	Weak transcription	Ovary	ovary
22	chr6:114267400-114289800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:114270400-114289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:114273600-114289200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:114275400-114289200	Weak transcription	Left Ventricle	heart
26	chr6:114275800-114282800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:114275800-114286000	Weak transcription	Primary T cells from cord blood	blood
28	chr6:114276000-114289200	Weak transcription	A549	lung
29	chr6:114276000-114289200	Weak transcription	HMEC	breast
30	chr6:114276000-114289400	Weak transcription	NHEK	skin
31	chr6:114276000-114289800	Weak transcription	NHLF	lung
32	chr6:114276200-114282000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:114276400-114283000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:114276800-114289000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:114277000-114282600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:114277000-114282600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:114277000-114288400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:114277000-114288600	Weak transcription	Fetal Intestine Small	intestine
39	chr6:114277000-114289200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:114277000-114289200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:114277000-114289400	Weak transcription	Fetal Stomach	stomach
42	chr6:114277000-114289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:114277200-114289000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr6:114277200-114289200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:114277400-114283800	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:114277400-114288800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:114277400-114288800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr6:114277400-114289600	Weak transcription	Thymus	Thymus
49	chr6:114277400-114290200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:114277600-114289800	Weak transcription	Rectal Mucosa Donor 31	rectum

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