Variant report

Variant	rs2494703
Chromosome Location	chr6:26636647-26636648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:26636053-26638693	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
VN1R14P	TF binding region
ENSG00000233631	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1027204	0.80[CHD][hapmap]
rs2451741	0.81[CHD][hapmap]
rs2494701	0.81[CHD][hapmap]
rs2498380	0.81[CHD][hapmap]
rs2504567	0.81[CHD][hapmap]
rs2504571	0.81[CHD][hapmap]
rs2504599	0.80[CHD][hapmap]
rs2504600	0.81[CHD][hapmap]
rs3800303	0.83[CHD][hapmap]
rs4368798	0.81[CHD][hapmap]
rs6918854	0.81[CHD][hapmap]
rs9467810	0.81[CHD][hapmap]

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	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2494703	HCG11	Cis_1M	lymphoblastoid	RTeQTL
rs2494703	HMGN4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26625400-26639200	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:26629400-26639200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:26629800-26640000	Weak transcription	Left Ventricle	heart
4	chr6:26630400-26640000	Weak transcription	Aorta	Aorta
5	chr6:26631400-26639000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:26631800-26639200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:26631800-26640400	Weak transcription	Pancreas	Pancrea
8	chr6:26632000-26640600	Weak transcription	Fetal Stomach	stomach
9	chr6:26632200-26639000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:26632200-26639200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:26632200-26639200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:26632400-26639000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:26632600-26638200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:26632600-26638800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:26632600-26638800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:26632600-26639000	Weak transcription	Dnd41	blood
17	chr6:26632600-26640000	Weak transcription	Fetal Kidney	kidney
18	chr6:26632800-26638400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:26632800-26639000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:26632800-26639200	Weak transcription	Psoas Muscle	Psoas
21	chr6:26632800-26640000	Weak transcription	Esophagus	oesophagus
22	chr6:26633000-26639000	Weak transcription	HepG2	liver
23	chr6:26633000-26639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:26633000-26639200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:26633000-26639200	Weak transcription	Right Ventricle	heart
26	chr6:26633000-26639400	Weak transcription	Colonic Mucosa	Colon
27	chr6:26633000-26640400	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:26633000-26658000	Weak transcription	Fetal Brain Male	brain
29	chr6:26633200-26638200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:26633200-26639800	Weak transcription	Gastric	stomach
31	chr6:26633200-26640000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:26633400-26639000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:26633400-26639200	Weak transcription	Primary T cells from cord blood	blood
34	chr6:26633400-26639200	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:26633400-26640000	Weak transcription	Spleen	Spleen
36	chr6:26633400-26640600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:26633600-26639000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:26633600-26639000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:26633800-26640000	Weak transcription	Lung	lung
40	chr6:26634200-26639200	Weak transcription	Fetal Lung	lung
41	chr6:26634400-26638200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:26634400-26638800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:26634400-26639200	Weak transcription	Small Intestine	intestine
44	chr6:26634600-26636800	Weak transcription	A549	lung
45	chr6:26634600-26636800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:26634600-26637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:26634600-26637600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:26634600-26638400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:26634600-26638400	Weak transcription	Liver	Liver
50	chr6:26634600-26638800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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