Variant report

Variant	rs997350
Chromosome Location	chr6:71214201-71214202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71213755..71215482-chr6:71215543..71217177,2	MCF-7	breast:
2	chr6:71213174..71214836-chr6:71218767..71221029,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1084382	1.00[ASN][1000 genomes]
rs1084385	1.00[ASN][1000 genomes]
rs1084386	1.00[ASN][1000 genomes]
rs10945228	1.00[ASN][1000 genomes]
rs13194594	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs13197182	0.88[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs13198944	0.86[EUR][1000 genomes]
rs13207234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210191	0.83[EUR][1000 genomes]
rs13218183	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs17634619	0.94[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs34238069	0.86[EUR][1000 genomes]
rs34257638	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34798144	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35371002	0.84[EUR][1000 genomes]
rs35426375	0.81[EUR][1000 genomes]
rs35457911	0.91[EUR][1000 genomes]
rs35462174	0.90[EUR][1000 genomes]
rs62420323	0.85[EUR][1000 genomes]
rs62420326	0.90[EUR][1000 genomes]
rs62421868	0.91[EUR][1000 genomes]
rs62421869	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62421874	0.84[EUR][1000 genomes]
rs62421877	0.83[EUR][1000 genomes]
rs7740106	1.00[ASN][1000 genomes]
rs782003	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv886144	chr6:71018467-71214201	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs997350	SNAP91	trans	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71181600-71215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:71183800-71216200	Weak transcription	Pancreas	Pancrea
3	chr6:71187400-71218200	Weak transcription	Small Intestine	intestine
4	chr6:71191200-71216000	Weak transcription	Gastric	stomach
5	chr6:71207600-71215200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:71208800-71215600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:71209400-71214800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:71209800-71216800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:71210400-71214600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:71210400-71214600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:71210600-71215200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:71210600-71216000	Strong transcription	Placenta	Placenta
13	chr6:71210600-71262000	Weak transcription	Fetal Thymus	thymus
14	chr6:71210800-71215800	Weak transcription	Thymus	Thymus
15	chr6:71210800-71216200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:71211200-71214400	Weak transcription	Lung	lung
17	chr6:71211400-71214400	ZNF genes & repeats	Fetal Lung	lung
18	chr6:71211400-71221600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:71211600-71214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:71211600-71214400	Weak transcription	Esophagus	oesophagus
21	chr6:71211600-71216400	Weak transcription	Fetal Stomach	stomach
22	chr6:71211800-71215200	Weak transcription	NH-A	brain
23	chr6:71212000-71215200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr6:71212000-71217600	Weak transcription	Hela-S3	cervix
25	chr6:71212200-71215400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr6:71212400-71214600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:71212400-71214600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr6:71212600-71214400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr6:71212600-71214400	ZNF genes & repeats	Fetal Brain Female	brain
30	chr6:71212600-71214600	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr6:71212600-71214600	ZNF genes & repeats	GM12878-XiMat	blood
32	chr6:71212600-71216200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:71212800-71214400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr6:71212800-71214400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:71212800-71214600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr6:71212800-71214600	ZNF genes & repeats	K562	blood
37	chr6:71212800-71214800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:71213200-71214400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr6:71213200-71214400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:71213200-71214400	ZNF genes & repeats	Fetal Kidney	kidney
41	chr6:71213200-71214800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr6:71213200-71216800	Weak transcription	Stomach Mucosa	stomach
43	chr6:71213400-71214400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
44	chr6:71213400-71214400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr6:71213400-71214400	ZNF genes & repeats	Fetal Brain Male	brain
46	chr6:71213400-71214400	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr6:71213600-71214400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr6:71213600-71214400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr6:71213600-71214400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr6:71213600-71214400	ZNF genes & repeats	Brain Anterior Caudate	brain

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