Variant report

Variant	rs73575554
Chromosome Location	chr11:100646368-100646369
allele	C/G
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:
2	chr11:100645862..100647987-chr11:100664461..100666503,2	K562	blood:

Variant related genes	Relation type
ENSG00000265208	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73575556	1.00[AFR][1000 genomes]
rs73575579	0.92[AFR][1000 genomes]
rs73575581	0.92[AFR][1000 genomes]
rs73575585	0.92[AFR][1000 genomes]
rs73577311	0.84[AFR][1000 genomes]
rs73577314	0.84[AFR][1000 genomes]
rs7932727	0.80[AFR][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:68 , 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	chr11:100632200-100647200	Weak transcription	HSMM	muscle
4	chr11:100633000-100647000	Weak transcription	NHLF	lung
5	chr11:100633200-100655600	Weak transcription	Psoas Muscle	Psoas
6	chr11:100633600-100647400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:100635200-100647400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:100635400-100649400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:100639800-100647400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:100640000-100648600	Weak transcription	Small Intestine	intestine
11	chr11:100640000-100649600	Weak transcription	Fetal Kidney	kidney
12	chr11:100640000-100655600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:100640200-100647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:100640200-100647200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:100640200-100648600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:100640200-100651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:100640400-100646600	Weak transcription	Dnd41	blood
18	chr11:100640400-100647000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:100640400-100648800	Weak transcription	Osteobl	bone
20	chr11:100640400-100651000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:100640800-100655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:100640800-100655200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:100640800-100655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:100640800-100655600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:100641000-100646800	Weak transcription	HMEC	breast
26	chr11:100641400-100646600	Strong transcription	Placenta	Placenta
27	chr11:100641400-100649600	Weak transcription	Primary B cells from cord blood	blood
28	chr11:100643200-100658000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:100643200-100660000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:100643400-100648600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:100643400-100648600	Weak transcription	Esophagus	oesophagus
32	chr11:100643400-100649200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:100643400-100655600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:100644200-100649200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:100644200-100650000	Enhancers	Stomach Mucosa	stomach
36	chr11:100644400-100646600	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:100644400-100648200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:100644400-100649800	Enhancers	Fetal Intestine Small	intestine
39	chr11:100644600-100647000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:100644600-100648000	Weak transcription	Fetal Heart	heart
41	chr11:100645000-100646400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:100645000-100646400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:100645000-100649200	Enhancers	Fetal Intestine Large	intestine
44	chr11:100645200-100646800	Enhancers	A549	lung
45	chr11:100645400-100646400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:100645400-100646400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr11:100645400-100649000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:100645400-100655800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:100645600-100649000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:100645600-100649000	Enhancers	Liver	Liver

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