Variant report

Variant	rs60100381
Chromosome Location	chr6:34327382-34327383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34290820..34292896-chr6:34325616..34327801,2	K562	blood:
2	chr6:34320498..34323149-chr6:34325939..34328541,3	K562	blood:
3	chr6:34203217..34204857-chr6:34324841..34327687,2	MCF-7	breast:
4	chr6:34325579..34328328-chr6:34358268..34360941,3	K562	blood:

Variant related genes	Relation type
ENSG00000137309	Chromatin interaction
ENSG00000272325	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12662460	0.86[ASN][1000 genomes]
rs12664001	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12665397	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16885998	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16889706	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16889714	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071928	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34384951	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778077	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3798564	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800476	0.84[AMR][1000 genomes]
rs3800477	0.84[AMR][1000 genomes]
rs4711390	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713770	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4713772	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713773	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713774	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713775	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713776	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713777	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4713780	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4713781	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713783	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713784	0.83[AMR][1000 genomes]
rs4713787	0.86[AMR][1000 genomes]
rs58648597	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59310759	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61582147	0.81[AMR][1000 genomes]
rs62399909	0.86[ASN][1000 genomes]
rs6924682	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6935129	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7752035	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7767431	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9348940	0.82[AMR][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34285200-34330600	Weak transcription	Thymus	Thymus
3	chr6:34306000-34327800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:34306000-34328800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:34308800-34330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:34309600-34329200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:34309800-34329800	Weak transcription	Fetal Thymus	thymus
8	chr6:34309800-34330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:34309800-34337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:34309800-34347200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:34310000-34330600	Weak transcription	Dnd41	blood
12	chr6:34310400-34329200	Weak transcription	Brain Angular Gyrus	brain
13	chr6:34310800-34330800	Weak transcription	Primary T cells from cord blood	blood
14	chr6:34315400-34351200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:34316200-34333400	Weak transcription	Placenta	Placenta
16	chr6:34317400-34330800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:34318200-34330600	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:34318200-34355800	Weak transcription	Brain Germinal Matrix	brain
19	chr6:34318400-34330000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:34318600-34330600	Weak transcription	Fetal Intestine Small	intestine
21	chr6:34318800-34327400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:34318800-34330600	Weak transcription	Adipose Nuclei	Adipose
23	chr6:34319400-34327600	Weak transcription	Right Atrium	heart
24	chr6:34320200-34327600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:34320200-34330800	Weak transcription	Primary B cells from cord blood	blood
26	chr6:34320400-34330400	Weak transcription	Aorta	Aorta
27	chr6:34320400-34330800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:34320400-34330800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:34320400-34333400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:34320400-34350400	Weak transcription	Esophagus	oesophagus
31	chr6:34320600-34327600	Weak transcription	Fetal Stomach	stomach
32	chr6:34320600-34330600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr6:34320600-34331000	Weak transcription	Small Intestine	intestine
34	chr6:34321600-34328800	Weak transcription	GM12878-XiMat	blood
35	chr6:34322200-34327600	Weak transcription	Pancreas	Pancrea
36	chr6:34322200-34329000	Weak transcription	K562	blood
37	chr6:34322200-34333600	Weak transcription	Lung	lung
38	chr6:34322400-34328200	Weak transcription	Right Ventricle	heart
39	chr6:34324000-34327400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:34324000-34327600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:34324200-34330600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:34325400-34331000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:34325600-34330600	Enhancers	Fetal Heart	heart
44	chr6:34325800-34327800	Enhancers	Colon Smooth Muscle	Colon
45	chr6:34325800-34328000	Enhancers	HSMMtube	muscle
46	chr6:34325800-34328400	Enhancers	HSMM	muscle
47	chr6:34325800-34328800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:34325800-34328800	Enhancers	NH-A	brain
49	chr6:34325800-34329200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:34325800-34329200	Enhancers	NHDF-Ad	bronchial

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