Variant report

Variant	rs73007642
Chromosome Location	chr11:100648634-100648635
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	chr11:100644974..100648921-chr11:100650172..100653387,4	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12809048	1.00[AFR][1000 genomes]
rs72996129	1.00[AFR][1000 genomes]
rs73005719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73007637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
2	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
3	chr11:100633200-100655600	Weak transcription	Psoas Muscle	Psoas
4	chr11:100635400-100649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr11:100640000-100649600	Weak transcription	Fetal Kidney	kidney
6	chr11:100640000-100655600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:100640200-100651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:100640400-100648800	Weak transcription	Osteobl	bone
9	chr11:100640400-100651000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:100640800-100655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:100640800-100655200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:100640800-100655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:100640800-100655600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:100641400-100649600	Weak transcription	Primary B cells from cord blood	blood
15	chr11:100643200-100658000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:100643200-100660000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:100643400-100649200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:100643400-100655600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:100644200-100649200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:100644200-100650000	Enhancers	Stomach Mucosa	stomach
21	chr11:100644400-100649800	Enhancers	Fetal Intestine Small	intestine
22	chr11:100645000-100649200	Enhancers	Fetal Intestine Large	intestine
23	chr11:100645400-100649000	Weak transcription	Adipose Nuclei	Adipose
24	chr11:100645400-100655800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:100645600-100649000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:100645600-100649000	Enhancers	Liver	Liver
27	chr11:100645600-100655600	Weak transcription	Gastric	stomach
28	chr11:100645600-100679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:100645800-100655600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:100645800-100656000	Weak transcription	Colonic Mucosa	Colon
31	chr11:100645800-100679600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:100646000-100649400	Weak transcription	Fetal Stomach	stomach
33	chr11:100646000-100651000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:100646000-100651200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:100646400-100651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:100646400-100655800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:100646600-100650200	Weak transcription	Placenta	Placenta
38	chr11:100646800-100649200	Enhancers	HMEC	breast
39	chr11:100647000-100649000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:100647000-100649400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:100647000-100649800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr11:100647400-100648800	Enhancers	Pancreas	Pancrea
43	chr11:100647400-100649000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:100647600-100648800	Weak transcription	HSMMtube	muscle
45	chr11:100648000-100649000	Enhancers	Fetal Heart	heart
46	chr11:100648000-100649000	Enhancers	HepG2	liver
47	chr11:100648000-100649600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr11:100648400-100648800	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:100648400-100648800	Weak transcription	HSMM	muscle
50	chr11:100648400-100649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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