Variant report

Variant	rs1264323
Chromosome Location	chr6:30855907-30855908
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30850549..30855941-chr6:30880357..30883667,13	MCF-7	breast:
2	chr6:30855370..30857666-chr6:30876080..30878565,2	MCF-7	breast:
3	chr6:30853891..30856446-chr6:30875282..30877202,3	K562	blood:
4	chr6:30705171..30717521-chr6:30843972..30856100,74	MCF-7	breast:
5	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
6	chr6:30688404..30690517-chr6:30855397..30858284,2	MCF-7	breast:
7	chr6:30854396..30859063-chr6:30880954..30884819,5	K562	blood:
8	chr6:30844198..30846831-chr6:30855109..30857991,4	K562	blood:
9	chr6:30687707..30689680-chr6:30855398..30858038,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137331	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1049623	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264328	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920760	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv884110	chr6:30845563-30856463	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv884111	chr6:30845563-30864279	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	nsv884112	chr6:30845563-30866618	Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
10	nsv884113	chr6:30846830-30857542	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv884114	chr6:30846830-30867830	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv884115	chr6:30847710-30858991	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
13	nsv884116	chr6:30848253-30864279	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
14	nsv884117	chr6:30849124-30862423	Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
15	nsv884118	chr6:30849822-30855907	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	nsv884119	chr6:30849822-30856692	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
17	nsv884120	chr6:30849822-30864279	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
18	nsv884121	chr6:30850191-30856692	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	nsv884122	chr6:30850191-30858991	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
20	nsv884123	chr6:30850191-30865904	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
21	nsv884124	chr6:30854090-30864279	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	18 gene(s)	inside rSNPs	diseases
22	nsv884125	chr6:30854090-30864829	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1264323	HIST1H2BL	cis	cerebellum	SCAN
rs1264323	DDR1	cis	lymphoblastoid	seeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30853000-30861600	Weak transcription	Small Intestine	intestine
2	chr6:30854000-30856800	Enhancers	NHDF-Ad	bronchial
3	chr6:30854400-30856800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:30854400-30857200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:30854400-30860600	Weak transcription	Aorta	Aorta
6	chr6:30854400-30862200	Weak transcription	Liver	Liver
7	chr6:30854600-30856000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:30854600-30856000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:30854600-30856200	Enhancers	Brain Angular Gyrus	brain
10	chr6:30854600-30856400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:30854600-30856400	Weak transcription	Primary T cells from cord blood	blood
12	chr6:30854600-30856400	Enhancers	Brain Anterior Caudate	brain
13	chr6:30854600-30856400	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:30854600-30856400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr6:30854600-30856400	Weak transcription	Colonic Mucosa	Colon
16	chr6:30854600-30856400	Weak transcription	Esophagus	oesophagus
17	chr6:30854600-30856400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:30854600-30856400	Weak transcription	Right Atrium	heart
19	chr6:30854600-30856600	Weak transcription	Lung	lung
20	chr6:30854600-30856600	Weak transcription	Spleen	Spleen
21	chr6:30854600-30856600	Enhancers	HSMM	muscle
22	chr6:30854600-30856800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:30854600-30857000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:30854600-30857000	Enhancers	Fetal Lung	lung
25	chr6:30854600-30860000	Weak transcription	Right Ventricle	heart
26	chr6:30854600-30875400	Weak transcription	Psoas Muscle	Psoas
27	chr6:30854800-30856000	Weak transcription	HSMMtube	muscle
28	chr6:30854800-30856200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:30854800-30856200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr6:30854800-30856400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:30854800-30856400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:30854800-30856400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:30854800-30856400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr6:30854800-30856400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:30854800-30856400	Enhancers	A549	lung
36	chr6:30854800-30856600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:30854800-30856600	Weak transcription	Placenta	Placenta
38	chr6:30854800-30856600	Weak transcription	Thymus	Thymus
39	chr6:30854800-30856600	Enhancers	K562	blood
40	chr6:30854800-30856800	Weak transcription	Adipose Nuclei	Adipose
41	chr6:30854800-30856800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:30854800-30857000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:30854800-30857400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:30854800-30858600	Genic enhancers	NHEK	skin
45	chr6:30854800-30862600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:30854800-30862600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:30854800-30870000	Weak transcription	Primary B cells from cord blood	blood
48	chr6:30854800-30875200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr6:30854800-30875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr6:30855000-30856000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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