Variant report

Variant	rs4756135
Chromosome Location	chr11:34353226-34353227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34351992..34353875-chr11:34377639..34379181,2	K562	blood:
2	chr11:34348938..34354072-chr11:34377839..34381430,6	MCF-7	breast:
3	chr11:34342106..34344369-chr11:34352747..34354682,2	MCF-7	breast:
4	chr11:34351980..34355833-chr11:34364485..34369065,5	MCF-7	breast:
5	chr11:34295048..34297358-chr11:34352691..34354542,2	MCF-7	breast:
6	chr11:34352862..34355628-chr11:34375081..34377214,3	MCF-7	breast:
7	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1001179	1.00[YRI][hapmap]
rs11032654	1.00[YRI][hapmap]
rs11032719	1.00[YRI][hapmap]
rs11032722	1.00[YRI][hapmap]
rs11032723	1.00[YRI][hapmap]
rs11032724	1.00[YRI][hapmap]
rs1267468	1.00[YRI][hapmap]
rs17269931	1.00[YRI][hapmap]
rs1925367	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2231828	1.00[YRI][hapmap]
rs494024	1.00[YRI][hapmap]
rs499406	1.00[YRI][hapmap]
rs533425	1.00[YRI][hapmap]
rs560807	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv818810	chr11:34337564-34354076	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	esv2753225	chr11:34338342-34354865	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
12	nsv508622	chr11:34350559-34363184	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756135	DCDC1	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34336200-34358200	Weak transcription	Thymus	Thymus
2	chr11:34339000-34357400	Weak transcription	Fetal Thymus	thymus
3	chr11:34346600-34353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:34347000-34355600	Weak transcription	GM12878-XiMat	blood
5	chr11:34347800-34354400	Enhancers	Fetal Stomach	stomach
6	chr11:34348400-34354400	Enhancers	Psoas Muscle	Psoas
7	chr11:34348600-34353600	Enhancers	Colon Smooth Muscle	Colon
8	chr11:34348600-34353800	Enhancers	Rectal Smooth Muscle	rectum
9	chr11:34349800-34353600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:34350800-34356400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:34351000-34353800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:34351000-34354400	Enhancers	Aorta	Aorta
13	chr11:34351200-34355000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:34351600-34354400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:34351800-34354000	Enhancers	Hela-S3	cervix
16	chr11:34351800-34354400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:34351800-34363800	Weak transcription	Left Ventricle	heart
18	chr11:34352200-34353400	Enhancers	Brain Germinal Matrix	brain
19	chr11:34352200-34354000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:34352200-34354000	Enhancers	HSMM	muscle
21	chr11:34352200-34354000	Enhancers	Osteobl	bone
22	chr11:34352200-34354400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:34352200-34354400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:34352200-34354600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:34352200-34354600	Enhancers	Fetal Lung	lung
26	chr11:34352400-34353400	Enhancers	Right Atrium	heart
27	chr11:34352400-34353600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:34352400-34353800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:34352400-34353800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:34352400-34354000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:34352400-34354000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:34352400-34354000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:34352400-34354000	Enhancers	HMEC	breast
34	chr11:34352400-34354600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:34352400-34354600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:34352400-34354800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:34352400-34355000	Enhancers	Brain Hippocampus Middle	brain
38	chr11:34352600-34353600	Weak transcription	HSMMtube	muscle
39	chr11:34352600-34354000	Enhancers	NHDF-Ad	bronchial
40	chr11:34352600-34354600	Enhancers	Brain Substantia Nigra	brain
41	chr11:34352600-34354600	Enhancers	NH-A	brain
42	chr11:34352600-34354800	Flanking Active TSS	A549	lung
43	chr11:34352600-34355000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:34352600-34363800	Weak transcription	Gastric	stomach
45	chr11:34352800-34353400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:34352800-34358600	Enhancers	HepG2	liver
47	chr11:34353000-34354400	Enhancers	Placenta	Placenta
48	chr11:34353000-34354600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:34353000-34354800	Enhancers	Brain Anterior Caudate	brain
50	chr11:34353200-34353400	Enhancers	Small Intestine	intestine

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