Variant report

Variant	rs73997605
Chromosome Location	chr2:234378164-234378165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234370710..234373600-chr2:234378038..234379575,2	MCF-7	breast:
2	chr2:234377919..234380691-chr2:234381184..234384244,3	MCF-7	breast:
3	chr2:234377292..234380088-chr2:234386184..234389025,2	MCF-7	breast:
4	chr2:234377166..234379474-chr2:234382800..234384518,2	K562	blood:
5	chr2:234377261..234380113-chr2:234384331..234386065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56836072	0.86[AFR][1000 genomes]
rs58963596	0.91[AFR][1000 genomes]
rs60732790	1.00[AFR][1000 genomes]
rs6709877	1.00[AFR][1000 genomes]
rs6732036	0.86[AFR][1000 genomes]
rs73995925	0.86[AFR][1000 genomes]
rs73995926	0.86[AFR][1000 genomes]
rs73995943	0.86[AFR][1000 genomes]
rs73995952	0.91[AFR][1000 genomes]
rs73995953	0.91[AFR][1000 genomes]
rs73995954	0.91[AFR][1000 genomes]
rs73995976	0.80[AFR][1000 genomes]
rs73996127	0.83[AFR][1000 genomes]
rs73997609	0.95[AFR][1000 genomes]
rs73997632	0.95[AFR][1000 genomes]
rs73997636	0.95[AFR][1000 genomes]
rs7562104	0.95[AFR][1000 genomes]
rs7594222	0.86[AFR][1000 genomes]
rs7599218	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
2	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
9	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:234352400-234380800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:234352600-234380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:234352600-234380800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:234353400-234379600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:234354000-234381600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:234357600-234382000	Strong transcription	Liver	Liver
26	chr2:234358200-234378400	Strong transcription	Fetal Intestine Small	intestine
27	chr2:234358200-234379000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:234358200-234379400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
30	chr2:234361400-234378200	Weak transcription	K562	blood
31	chr2:234362400-234384600	Strong transcription	Spleen	Spleen
32	chr2:234362600-234379600	Strong transcription	HSMMtube	muscle
33	chr2:234363600-234379800	Weak transcription	HMEC	breast
34	chr2:234363800-234390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
37	chr2:234369200-234378200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr2:234369200-234381400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:234370000-234381600	Strong transcription	Fetal Thymus	thymus
40	chr2:234370000-234382000	Strong transcription	Thymus	Thymus
41	chr2:234370200-234381400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:234371400-234379000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:234371600-234378400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:234372600-234378200	Weak transcription	Fetal Brain Male	brain
45	chr2:234372800-234378400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:234373000-234392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:234373200-234380200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:234373200-234382800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:234373400-234391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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