Variant report

Variant	rs2272529
Chromosome Location	chr2:178112710-178112711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178076414..178079141-chr2:178112041..178114718,2	MCF-7	breast:
2	chr2:178097414..178099677-chr2:178111706..178113385,2	MCF-7	breast:
3	chr2:178105694..178108997-chr2:178110306..178114236,4	MCF-7	breast:
4	chr2:178112424..178116788-chr2:178259811..178263251,4	K562	blood:

Variant related genes	Relation type
ENSG00000229337	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000263721	Chromatin interaction

rs_ID	r²[population]
rs10179975	1.00[JPT][hapmap]
rs10184488	1.00[JPT][hapmap]
rs10207932	1.00[JPT][hapmap]
rs10497509	1.00[JPT][hapmap]
rs10754987	1.00[JPT][hapmap]
rs10754988	1.00[JPT][hapmap]
rs10930783	1.00[JPT][hapmap]
rs10930784	1.00[JPT][hapmap]
rs10930788	1.00[JPT][hapmap]
rs11681133	1.00[JPT][hapmap]
rs11885056	1.00[EUR][1000 genomes]
rs13002088	1.00[JPT][hapmap]
rs13017003	1.00[JPT][hapmap]
rs13017227	1.00[JPT][hapmap]
rs13392350	1.00[JPT][hapmap]
rs13419450	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1453374	1.00[JPT][hapmap]
rs1453375	1.00[JPT][hapmap]
rs16865143	1.00[JPT][hapmap]
rs16865148	1.00[JPT][hapmap]
rs16865187	1.00[JPT][hapmap]
rs16865189	1.00[JPT][hapmap]
rs16865191	1.00[JPT][hapmap]
rs1901823	1.00[JPT][hapmap]
rs2167902	1.00[JPT][hapmap]
rs2364733	1.00[JPT][hapmap]
rs2364848	1.00[JPT][hapmap]
rs3754989	1.00[JPT][hapmap]
rs3813260	1.00[JPT][hapmap]
rs4130304	1.00[JPT][hapmap]
rs4402804	1.00[JPT][hapmap]
rs4893930	1.00[JPT][hapmap]
rs4893940	1.00[JPT][hapmap]
rs4893942	1.00[JPT][hapmap]
rs6414095	1.00[JPT][hapmap]
rs6433666	1.00[JPT][hapmap]
rs6720934	1.00[JPT][hapmap]
rs6724177	1.00[JPT][hapmap]
rs6732250	1.00[JPT][hapmap]
rs6740092	1.00[JPT][hapmap]
rs6744247	1.00[JPT][hapmap]
rs6746113	1.00[JPT][hapmap]
rs7570297	1.00[JPT][hapmap]
rs7575328	1.00[JPT][hapmap]
rs7578962	1.00[JPT][hapmap]
rs7585952	1.00[JPT][hapmap]
rs7594073	1.00[JPT][hapmap]
rs7601132	1.00[JPT][hapmap]
rs7602451	1.00[JPT][hapmap]
rs935948	1.00[JPT][hapmap]
rs935949	1.00[JPT][hapmap]

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834465	chr2:178067294-178115113	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178078600-178121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:178099400-178117600	Genic enhancers	HepG2	liver
3	chr2:178100600-178113200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:178105000-178113400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:178105200-178113400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:178105400-178113200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:178107200-178126000	Weak transcription	Brain Germinal Matrix	brain
8	chr2:178107400-178114800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:178107800-178123000	Enhancers	Psoas Muscle	Psoas
10	chr2:178108000-178115400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:178108000-178116400	Enhancers	Ovary	ovary
12	chr2:178108200-178112800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:178108200-178114600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:178108200-178115200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:178108200-178115400	Weak transcription	GM12878-XiMat	blood
16	chr2:178108200-178116800	Weak transcription	Fetal Kidney	kidney
17	chr2:178108200-178117000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:178108200-178118800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:178108200-178122600	Enhancers	Adipose Nuclei	Adipose
20	chr2:178108400-178113400	Enhancers	Liver	Liver
21	chr2:178108400-178114400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:178108400-178115000	Weak transcription	Primary T cells from cord blood	blood
23	chr2:178108600-178113000	Weak transcription	Brain Angular Gyrus	brain
24	chr2:178108600-178113600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:178108600-178116200	Weak transcription	Colonic Mucosa	Colon
26	chr2:178108600-178116800	Weak transcription	Fetal Lung	lung
27	chr2:178108600-178117000	Weak transcription	Thymus	Thymus
28	chr2:178109200-178113800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:178109200-178118000	Enhancers	Right Atrium	heart
30	chr2:178109400-178113200	Weak transcription	Fetal Thymus	thymus
31	chr2:178109400-178113600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:178109400-178118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:178109600-178113200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:178109600-178113400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:178109600-178114000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:178109800-178112800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr2:178109800-178113200	Enhancers	Brain Hippocampus Middle	brain
38	chr2:178110000-178113800	Genic enhancers	Fetal Intestine Small	intestine
39	chr2:178110200-178116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:178110200-178119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:178110400-178114000	Enhancers	K562	blood
42	chr2:178110400-178114600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:178110400-178116000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:178110400-178118600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:178110600-178113400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:178110600-178113600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:178110800-178113200	Enhancers	Brain Substantia Nigra	brain
48	chr2:178110800-178118800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:178111000-178112800	Weak transcription	HMEC	breast
50	chr2:178111000-178113200	Weak transcription	Fetal Muscle Leg	muscle

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