Variant report

Variant	rs11968721
Chromosome Location	chr6:35855286-35855287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35848876..35852959-chr6:35854286..35857264,7	K562	blood:
2	chr6:35844707..35847312-chr6:35855207..35856955,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12153849	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1326755	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2395637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs611735	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6457865	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs683423	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9394324	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11968721	SRPK1	cis	parietal	SCAN
rs11968721	C6orf106	cis	cerebellum	SCAN
rs11968721	CDKN1A	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35787800-35855600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:35800600-35859000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:35807000-35860400	Weak transcription	Brain Angular Gyrus	brain
4	chr6:35817000-35859000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:35824400-35858400	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:35824400-35863800	Weak transcription	Right Ventricle	heart
7	chr6:35825000-35885600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr6:35825200-35874600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:35825400-35856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:35826400-35858800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:35827000-35858800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr6:35832000-35856800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:35835000-35865400	Weak transcription	Spleen	Spleen
14	chr6:35835600-35873800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:35837000-35876800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:35837400-35863200	Weak transcription	Pancreas	Pancrea
17	chr6:35837400-35887000	Weak transcription	Psoas Muscle	Psoas
18	chr6:35837400-35887400	Weak transcription	Gastric	stomach
19	chr6:35837600-35855400	Weak transcription	Brain Substantia Nigra	brain
20	chr6:35837800-35863400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:35837800-35880600	Weak transcription	Aorta	Aorta
22	chr6:35837800-35886800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:35838200-35871400	Weak transcription	HSMMtube	muscle
24	chr6:35838600-35887400	Weak transcription	Small Intestine	intestine
25	chr6:35838800-35885000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr6:35839400-35873000	Weak transcription	NHLF	lung
27	chr6:35843600-35858800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:35847200-35857000	Strong transcription	Hela-S3	cervix
29	chr6:35847200-35857200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:35847800-35859000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:35847800-35862600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:35847800-35863200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:35848400-35871400	Weak transcription	Lung	lung
34	chr6:35848400-35876200	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:35848600-35863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:35849000-35860000	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:35849000-35862800	Weak transcription	Brain Anterior Caudate	brain
38	chr6:35849000-35872800	Weak transcription	Ovary	ovary
39	chr6:35849000-35875600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:35849000-35876600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:35849200-35885400	Weak transcription	NHDF-Ad	bronchial
42	chr6:35849400-35859000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:35849600-35856600	Strong transcription	Primary B cells from cord blood	blood
44	chr6:35849800-35856000	Strong transcription	Fetal Intestine Large	intestine
45	chr6:35849800-35858800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:35849800-35858800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr6:35850000-35855800	Weak transcription	Fetal Lung	lung
48	chr6:35850000-35857000	Strong transcription	Dnd41	blood
49	chr6:35850000-35857600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:35850000-35858600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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