Variant report

Variant	rs2031373
Chromosome Location	chr1:63083289-63083290
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:63081404..63083878-chr1:63086190..63087709,2	K562	blood:
2	chr1:63063894..63067391-chr1:63081562..63083857,3	K562	blood:
3	chr1:63081752..63083296-chr1:63090887..63092573,2	MCF-7	breast:
4	chr1:63065055..63067391-chr1:63081562..63083375,2	K562	blood:
5	chr1:63082239..63084843-chr1:63153676..63156091,2	K562	blood:

Variant related genes	Relation type
ENSG00000116641	Chromatin interaction
ENSG00000235545	Chromatin interaction
ENSG00000132855	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10789121	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168116	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1168124	0.95[YRI][hapmap]
rs1183851	0.84[EUR][1000 genomes]
rs7538689	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	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
3	nsv870559	chr1:63057136-63113719	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1000988	chr1:63061791-63107526	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2031373	DOCK7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
2	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:63038400-63087600	Weak transcription	NHEK	skin
4	chr1:63038400-63095600	Weak transcription	Brain Germinal Matrix	brain
5	chr1:63039200-63095200	Weak transcription	Ovary	ovary
6	chr1:63041000-63095200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:63041000-63095600	Weak transcription	Fetal Stomach	stomach
8	chr1:63042200-63083600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:63050600-63083800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:63051800-63083400	Weak transcription	Fetal Lung	lung
11	chr1:63051800-63096000	Weak transcription	Left Ventricle	heart
12	chr1:63052400-63083800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:63052600-63084400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:63054800-63087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:63057000-63083800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:63063200-63085000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:63065400-63087800	Weak transcription	Stomach Mucosa	stomach
18	chr1:63066800-63112200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:63068400-63095200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:63072000-63089400	Weak transcription	Fetal Kidney	kidney
21	chr1:63072000-63095800	Weak transcription	Primary T cells from cord blood	blood
22	chr1:63074400-63095600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:63074400-63099000	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:63074600-63084400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:63075200-63095200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:63075400-63095600	Weak transcription	Fetal Brain Female	brain
27	chr1:63075400-63095600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:63075600-63087600	Weak transcription	HSMMtube	muscle
29	chr1:63075600-63095600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:63075600-63106600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:63075800-63095800	Weak transcription	Aorta	Aorta
32	chr1:63075800-63099000	Weak transcription	Fetal Brain Male	brain
33	chr1:63076200-63086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:63076400-63097000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:63077200-63083400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:63077200-63087600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:63077400-63095200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:63077600-63084400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:63078000-63083600	Weak transcription	Dnd41	blood
40	chr1:63078600-63083600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:63078600-63087600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:63078800-63083800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:63079000-63087600	Weak transcription	HMEC	breast
44	chr1:63079200-63098800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:63079200-63099000	Weak transcription	Brain Angular Gyrus	brain
46	chr1:63079600-63091200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:63079600-63095800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:63079600-63095800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:63079800-63083400	Weak transcription	Liver	Liver
50	chr1:63079800-63108800	Weak transcription	Primary B cells from cord blood	blood

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