Variant report

Variant	rs55671524
Chromosome Location	chr2:85880388-85880389
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	chr2:85878852..85881419-chr2:85931468..85933087,2	MCF-7	breast:
2	chr2:85879386..85881998-chr2:85891410..85893784,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1049359	0.83[EUR][1000 genomes]
rs11544042	0.83[EUR][1000 genomes]
rs17736515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2232739	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41290037	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55759724	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56367745	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6547627	0.83[EUR][1000 genomes]
rs72843878	0.83[EUR][1000 genomes]
rs72843879	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7607181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85844800-85881600	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:85845000-85880800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:85845000-85881400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:85845000-85881800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:85845000-85883600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:85845400-85881000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:85845400-85881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:85845400-85886400	Strong transcription	Fetal Muscle Leg	muscle
9	chr2:85845600-85881800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:85845600-85882200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:85845800-85881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:85845800-85881600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:85845800-85881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:85846000-85880800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:85846000-85881400	Strong transcription	Fetal Stomach	stomach
16	chr2:85846000-85881400	Strong transcription	Fetal Thymus	thymus
17	chr2:85846000-85887000	Strong transcription	Liver	Liver
18	chr2:85846000-85887400	Strong transcription	Fetal Intestine Small	intestine
19	chr2:85846200-85880600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr2:85846200-85881200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:85846200-85881400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:85846200-85881400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:85846200-85882000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:85846200-85889400	Strong transcription	Thymus	Thymus
25	chr2:85846400-85880600	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr2:85846800-85881400	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr2:85846800-85881600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:85847800-85881400	Strong transcription	Dnd41	blood
29	chr2:85849800-85880600	Strong transcription	Fetal Brain Female	brain
30	chr2:85856200-85881600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:85856200-85882400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:85857200-85880600	Strong transcription	Rectal Smooth Muscle	rectum
33	chr2:85861600-85883800	Strong transcription	HMEC	breast
34	chr2:85862000-85887200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:85862200-85881600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:85865000-85880600	Strong transcription	Brain Germinal Matrix	brain
37	chr2:85865000-85881400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:85865000-85884000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:85865800-85880600	Strong transcription	Left Ventricle	heart
40	chr2:85865800-85881400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr2:85870200-85880800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:85870800-85881600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:85873200-85882000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:85873200-85886600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:85875600-85881000	Weak transcription	Fetal Kidney	kidney
46	chr2:85876000-85881600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:85876200-85880600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:85876200-85880600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:85876200-85881000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:85876400-85888800	Weak transcription	Fetal Heart	heart

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