Variant report

Variant	rs73093384
Chromosome Location	chr2:231273981-231273982
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	chr2:231273497..231275007-chr2:231279310..231281217,2	MCF-7	breast:
2	chr2:231211181..231213107-chr2:231272080..231274624,2	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs61734774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6436931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712488	0.84[AFR][1000 genomes]
rs6751334	0.84[AFR][1000 genomes]
rs73093368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093372	0.84[AFR][1000 genomes]
rs73093373	0.84[AFR][1000 genomes]
rs73093379	0.84[AFR][1000 genomes]
rs73093381	0.84[AFR][1000 genomes]
rs73093383	0.84[AFR][1000 genomes]
rs73093391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095032	1.00[AFR][1000 genomes]
rs73095042	0.92[AFR][1000 genomes]
rs73112323	0.96[AFR][1000 genomes]
rs7602520	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2751844	chr2:231179495-231280495	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv875946	chr2:231184106-231277567	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875947	chr2:231190446-231281286	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv521344	chr2:231267925-231281286	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231220000-231275800	Weak transcription	Stomach Mucosa	stomach
2	chr2:231228800-231275600	Weak transcription	Psoas Muscle	Psoas
3	chr2:231234200-231274400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:231248000-231274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:231255200-231275600	Weak transcription	HMEC	breast
6	chr2:231258800-231275600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:231260200-231275400	Weak transcription	Small Intestine	intestine
8	chr2:231264600-231275800	Weak transcription	K562	blood
9	chr2:231265000-231275600	Weak transcription	Fetal Heart	heart
10	chr2:231265400-231275400	Weak transcription	HepG2	liver
11	chr2:231265600-231275400	Weak transcription	Colonic Mucosa	Colon
12	chr2:231265600-231275400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:231265600-231275600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:231267600-231275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:231268600-231275200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:231268800-231275400	Weak transcription	Fetal Thymus	thymus
17	chr2:231268800-231275600	Weak transcription	Dnd41	blood
18	chr2:231269000-231275200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:231269000-231275200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:231269200-231275600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:231269200-231275800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:231269800-231274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:231269800-231275400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:231269800-231275600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:231270000-231276000	Enhancers	HUVEC	blood vessel
26	chr2:231270600-231275600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:231270600-231275800	Weak transcription	HSMMtube	muscle
28	chr2:231270800-231274400	Weak transcription	GM12878-XiMat	blood
29	chr2:231270800-231275600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:231271800-231275400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:231272000-231275600	Weak transcription	Primary T cells from cord blood	blood
32	chr2:231272000-231275600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:231272000-231275800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:231272400-231274600	Enhancers	Right Atrium	heart
35	chr2:231272600-231274000	Enhancers	NHLF	lung
36	chr2:231272600-231274200	Enhancers	NHDF-Ad	bronchial
37	chr2:231272600-231274400	Weak transcription	Primary B cells from cord blood	blood
38	chr2:231272600-231275600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:231272800-231274000	Enhancers	NHEK	skin
40	chr2:231272800-231274200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:231272800-231274200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:231272800-231275400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:231272800-231275600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:231272800-231275800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:231273000-231274000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:231273000-231274000	Enhancers	NH-A	brain
47	chr2:231273000-231274200	Enhancers	Lung	lung
48	chr2:231273200-231274000	Enhancers	Aorta	Aorta
49	chr2:231273200-231274000	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:231273200-231274200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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