Variant report

Variant	rs11208003
Chromosome Location	chr1:63141967-63141968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:63140831..63143543-chr1:63152507..63154654,2	MCF-7	breast:
2	chr1:63139232..63141601-chr1:63141772..63144186,2	K562	blood:
3	chr1:63141617..63143983-chr1:63151351..63153918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116641	Chromatin interaction
ENSG00000235545	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1072865	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11207993	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12092541	0.82[EUR][1000 genomes]
rs12116657	0.80[EUR][1000 genomes]
rs12117388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41290146	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61775956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs912540	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11208003	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
2	chr1:63107600-63147800	Weak transcription	NHEK	skin
3	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
4	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
7	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
8	chr1:63112400-63142400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:63112400-63142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:63113400-63142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:63113400-63142400	Weak transcription	Osteobl	bone
13	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:63114000-63143000	Weak transcription	Aorta	Aorta
16	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:63118200-63147600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:63119000-63148000	Weak transcription	Fetal Brain Female	brain
19	chr1:63119800-63142400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:63119800-63142400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:63119800-63150200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:63123000-63147800	Weak transcription	Gastric	stomach
23	chr1:63126800-63147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:63127000-63142200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:63127400-63142400	Weak transcription	HSMM	muscle
26	chr1:63127800-63142400	Weak transcription	NH-A	brain
27	chr1:63128600-63142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:63128800-63147400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:63128800-63150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:63131200-63149200	Weak transcription	Fetal Intestine Small	intestine
31	chr1:63133000-63147600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:63134200-63143000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:63135000-63142800	Weak transcription	Fetal Heart	heart
34	chr1:63135200-63142200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:63135400-63142400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:63137400-63147800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:63138400-63151000	Weak transcription	Fetal Intestine Large	intestine
39	chr1:63138600-63150800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:63138800-63148200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:63138800-63150000	Weak transcription	Stomach Mucosa	stomach
42	chr1:63139600-63142200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:63139600-63142200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:63140800-63142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:63140800-63143200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:63140800-63148000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:63141000-63142000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:63141000-63142000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:63141000-63142200	Weak transcription	K562	blood
50	chr1:63141000-63142400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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