Variant report

Variant	rs7341315
Chromosome Location	chr6:146214924-146214925
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	ARID3A	chr6:146214733-146214978	K562	blood:	n/a	n/a
2	MYC	chr6:146214788-146215067	K562	blood:	n/a	n/a
3	EP300	chr6:146214778-146214976	K562	blood:	n/a	chr6:146214810-146214824
4	CREB1	chr6:146214578-146215201	K562	blood:	n/a	n/a
5	MAX	chr6:146214805-146215028	K562	blood:	n/a	n/a
6	MXI1	chr6:146214574-146215254	SK-N-SH	brain:	n/a	n/a
7	BHLHE40	chr6:146214806-146215003	K562	blood:	n/a	n/a
8	GATA3	chr6:146214872-146215024	SH-SY5Y	brain:	n/a	n/a
9	MAFF	chr6:146214805-146214957	K562	blood:	n/a	n/a
10	ATF1	chr6:146214733-146215087	K562	blood:	n/a	n/a
11	JUND	chr6:146214755-146215032	K562	blood:	n/a	n/a
12	EP300	chr6:146214313-146215309	SK-N-SH	brain:	n/a	chr6:146214810-146214824
13	CREB1	chr6:146214732-146215104	K562	blood:	n/a	n/a
14	TBL1XR1	chr6:146214873-146215072	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:146055478..146057329-chr6:146213622..146216410,2	K562	blood:

Variant related genes	Relation type
SHPRH	TF binding region
ENSG00000270638	Chromatin interaction
ENSG00000112425	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17223456	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821586	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821684	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821702	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17822170	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856245	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1988640	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068029	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4343934	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895680	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895681	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895686	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896846	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896849	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56241331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58588227	1.00[ASN][1000 genomes]
rs60043524	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61041405	1.00[ASN][1000 genomes]
rs6570721	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6570722	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914746	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920248	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6921551	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938028	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734166	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73568138	1.00[ASN][1000 genomes]
rs73570014	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73579478	1.00[ASN][1000 genomes]
rs9767028	1.00[ASN][1000 genomes]
rs999859	1.00[CEU][hapmap]
rs999860	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830835	chr6:146145148-146287473	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv437525	chr6:146212285-146230454	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146188000-146218800	Weak transcription	Right Ventricle	heart
2	chr6:146196600-146219600	Weak transcription	HMEC	breast
3	chr6:146197800-146219600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:146198200-146218600	Weak transcription	Fetal Heart	heart
5	chr6:146198200-146225600	Weak transcription	HSMMtube	muscle
6	chr6:146200400-146228600	Weak transcription	Pancreas	Pancrea
7	chr6:146201200-146217400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:146201200-146225600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:146201200-146230400	Weak transcription	NHEK	skin
10	chr6:146201800-146219600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:146202800-146220000	Weak transcription	Thymus	Thymus
12	chr6:146203200-146219600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:146203400-146218600	Weak transcription	A549	lung
14	chr6:146204800-146224800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:146206600-146215400	Strong transcription	Adipose Nuclei	Adipose
16	chr6:146206800-146219600	Weak transcription	Fetal Intestine Small	intestine
17	chr6:146207400-146217600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:146207800-146240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr6:146208000-146219000	Weak transcription	Small Intestine	intestine
20	chr6:146208200-146215400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:146208400-146215000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:146208400-146216800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:146208400-146218000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:146208400-146218800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:146208800-146215400	Strong transcription	Fetal Thymus	thymus
26	chr6:146208800-146230000	Weak transcription	Colonic Mucosa	Colon
27	chr6:146209000-146216800	Strong transcription	Dnd41	blood
28	chr6:146209200-146215200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:146209400-146215000	Strong transcription	Primary B cells from cord blood	blood
30	chr6:146209400-146215200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:146209600-146215000	Strong transcription	Left Ventricle	heart
32	chr6:146209600-146215000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:146209800-146219000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:146210200-146219800	Weak transcription	Gastric	stomach
35	chr6:146210200-146231000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:146210400-146218800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:146210400-146218800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:146210400-146218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:146210400-146219600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:146210400-146219600	Weak transcription	Lung	lung
41	chr6:146210400-146219800	Weak transcription	Esophagus	oesophagus
42	chr6:146210400-146221600	Weak transcription	Psoas Muscle	Psoas
43	chr6:146210400-146230400	Weak transcription	NH-A	brain
44	chr6:146210400-146282000	Weak transcription	Spleen	Spleen
45	chr6:146211000-146215400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:146211000-146218800	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:146211200-146215400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:146211200-146218400	Weak transcription	Fetal Brain Male	brain
49	chr6:146211200-146224800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:146211600-146215000	Strong transcription	Fetal Muscle Leg	muscle

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