Variant report

Variant	rs4713311
Chromosome Location	chr6:30272221-30272222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30272069-30272451	K562	blood:	n/a	n/a
2	POLR2A	chr6:30272140-30272490	K562	blood:	n/a	n/a
3	POLR2A	chr6:30272065-30272298	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30270616..30273221-chr6:30274545..30277128,2	MCF-7	breast:
2	chr6:30258650..30265091-chr6:30270138..30274799,6	MCF-7	breast:
3	chr6:30268695..30274088-chr6:30293337..30295867,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM26-2	chr6:30271848-30274737	ENSG00000231074.4

No data

Variant related genes	Relation type
HCG18	TF binding region
ENSG00000231074	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10484551	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897337	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897339	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188212	0.83[ASN][1000 genomes]
rs17188470	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17194565	0.83[ASN][1000 genomes]
rs17194767	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194789	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17194852	1.00[EUR][1000 genomes]
rs17194859	0.82[EUR][1000 genomes]
rs2021363	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021364	0.91[ASN][1000 genomes]
rs2285794	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285799	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2894146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3094070	1.00[ASN][1000 genomes]
rs3094071	1.00[ASN][1000 genomes]
rs3094072	1.00[ASN][1000 genomes]
rs3094073	1.00[ASN][1000 genomes]
rs3094074	1.00[ASN][1000 genomes]
rs3094077	1.00[ASN][1000 genomes]
rs3094630	1.00[ASN][1000 genomes]
rs3094632	1.00[ASN][1000 genomes]
rs3129697	1.00[ASN][1000 genomes]
rs3129699	1.00[ASN][1000 genomes]
rs3129700	1.00[ASN][1000 genomes]
rs3129701	1.00[ASN][1000 genomes]
rs3129702	1.00[ASN][1000 genomes]
rs3129703	0.95[ASN][1000 genomes]
rs3129705	1.00[ASN][1000 genomes]
rs3129706	1.00[ASN][1000 genomes]
rs3129707	1.00[ASN][1000 genomes]
rs3129708	1.00[ASN][1000 genomes]
rs3129831	1.00[ASN][1000 genomes]
rs3129832	1.00[ASN][1000 genomes]
rs3129835	1.00[ASN][1000 genomes]
rs3130398	1.00[ASN][1000 genomes]
rs3130400	1.00[ASN][1000 genomes]
rs3130401	1.00[ASN][1000 genomes]
rs3130403	1.00[ASN][1000 genomes]
rs3130404	1.00[ASN][1000 genomes]
rs3130405	0.87[ASN][1000 genomes]
rs3132655	1.00[ASN][1000 genomes]
rs3132656	1.00[ASN][1000 genomes]
rs3132657	1.00[ASN][1000 genomes]
rs3132658	1.00[ASN][1000 genomes]
rs3132659	1.00[ASN][1000 genomes]
rs3778625	0.91[ASN][1000 genomes]
rs3800332	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711210	0.83[ASN][1000 genomes]
rs4711212	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713302	0.83[ASN][1000 genomes]
rs4713304	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713306	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713309	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713310	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713312	0.91[ASN][1000 genomes]
rs4713313	0.91[ASN][1000 genomes]
rs4713314	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56707099	0.91[ASN][1000 genomes]
rs56725475	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56812420	0.86[ASN][1000 genomes]
rs56847466	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57686281	0.83[ASN][1000 genomes]
rs57708012	0.89[ASN][1000 genomes]
rs57715221	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58226684	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59046803	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60925525	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61017790	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61619108	0.91[ASN][1000 genomes]
rs9261629	1.00[ASN][1000 genomes]
rs9261630	1.00[ASN][1000 genomes]
rs9261636	1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4713311	HCG18	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30256200-30292000	Weak transcription	Fetal Heart	heart
2	chr6:30257600-30292800	Weak transcription	Fetal Kidney	kidney
3	chr6:30259000-30287200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:30262600-30279200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:30262600-30279600	Weak transcription	Small Intestine	intestine
6	chr6:30262600-30292400	Weak transcription	Pancreas	Pancrea
7	chr6:30262800-30280200	Weak transcription	HUVEC	blood vessel
8	chr6:30262800-30280400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:30262800-30283200	Weak transcription	NHLF	lung
10	chr6:30262800-30290200	Weak transcription	Spleen	Spleen
11	chr6:30263000-30277200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:30263000-30280000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:30263000-30281400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:30263000-30282000	Weak transcription	Psoas Muscle	Psoas
15	chr6:30263000-30293000	Weak transcription	Brain Substantia Nigra	brain
16	chr6:30263200-30280200	Weak transcription	HSMMtube	muscle
17	chr6:30263200-30280600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:30263200-30281600	Weak transcription	Right Ventricle	heart
19	chr6:30263800-30280800	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:30264000-30280800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:30264200-30280200	Weak transcription	NH-A	brain
22	chr6:30264200-30286600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:30264200-30289800	Weak transcription	Gastric	stomach
24	chr6:30264400-30285200	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:30266000-30272400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:30266000-30275400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:30267400-30273400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr6:30267600-30273200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr6:30268200-30277800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr6:30268400-30273000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr6:30268400-30273000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:30268400-30273200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:30268600-30273000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:30268600-30278200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:30268600-30278600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:30268800-30272400	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr6:30269000-30273000	Strong transcription	Primary B cells from cord blood	blood
38	chr6:30269000-30274600	Strong transcription	HSMM	muscle
39	chr6:30269000-30275000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:30269000-30277800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr6:30269000-30278200	Strong transcription	HepG2	liver
42	chr6:30269000-30278600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:30269200-30272400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr6:30269200-30273200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:30269200-30274600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:30269200-30285800	Strong transcription	Dnd41	blood
47	chr6:30269400-30273600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:30269600-30274600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:30270000-30273400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr6:30270200-30272400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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