Variant report

Variant	rs13230554
Chromosome Location	chr7:98730819-98730820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98730089..98736251-chr7:98737057..98742639,7	MCF-7	breast:
2	chr7:98725085..98728334-chr7:98729871..98732024,4	K562	blood:
3	chr7:98728487..98731419-chr7:98740223..98742348,2	MCF-7	breast:
4	chr7:98729782..98731427-chr7:98738611..98740186,2	MCF-7	breast:
5	chr7:98720831..98724792-chr7:98728821..98732987,4	K562	blood:
6	chr7:98714681..98717371-chr7:98728809..98730970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12705053	1.00[AFR][1000 genomes]
rs13228146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13234987	1.00[AFR][1000 genomes]
rs17161652	1.00[CEU][hapmap]
rs17161677	1.00[CEU][hapmap]
rs34337778	1.00[AFR][1000 genomes]
rs35392648	1.00[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	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2755119	chr7:98721885-98800145	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98707200-98739400	Weak transcription	Thymus	Thymus
2	chr7:98710000-98739200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:98714800-98739400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:98717000-98731000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:98718200-98736400	Weak transcription	Dnd41	blood
6	chr7:98718800-98734800	Weak transcription	Fetal Brain Female	brain
7	chr7:98721800-98731200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:98721800-98735000	Weak transcription	HSMMtube	muscle
9	chr7:98721800-98735400	Enhancers	Stomach Mucosa	stomach
10	chr7:98722000-98739600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:98722200-98731400	Weak transcription	Primary T cells from cord blood	blood
12	chr7:98722200-98738600	Weak transcription	Fetal Intestine Small	intestine
13	chr7:98722400-98733000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:98722400-98739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:98722600-98734800	Weak transcription	Fetal Heart	heart
16	chr7:98723400-98735800	Weak transcription	Hela-S3	cervix
17	chr7:98723600-98735000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:98723600-98738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:98723800-98738600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:98724400-98731000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:98725000-98731800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:98725000-98731800	Weak transcription	Fetal Lung	lung
23	chr7:98725000-98734800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:98725000-98735000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:98725000-98739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:98726000-98731400	Weak transcription	HSMM	muscle
27	chr7:98726600-98734800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:98726800-98734400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:98727600-98731200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:98727600-98731400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:98727600-98733600	Weak transcription	NHDF-Ad	bronchial
32	chr7:98728000-98733000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:98728200-98731400	Enhancers	K562	blood
34	chr7:98728200-98733400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:98728400-98731000	Weak transcription	A549	lung
36	chr7:98728400-98731200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:98728400-98732000	Enhancers	Small Intestine	intestine
38	chr7:98728800-98734400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:98729000-98731000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:98729000-98731400	Enhancers	Psoas Muscle	Psoas
41	chr7:98729000-98731600	Enhancers	Brain Hippocampus Middle	brain
42	chr7:98729200-98731000	Enhancers	Gastric	stomach
43	chr7:98729200-98732000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:98729200-98732000	Enhancers	Brain Anterior Caudate	brain
45	chr7:98729400-98731000	Enhancers	Aorta	Aorta
46	chr7:98729400-98731000	Enhancers	Brain Angular Gyrus	brain
47	chr7:98729400-98731000	Enhancers	Left Ventricle	heart
48	chr7:98729400-98731000	Enhancers	Ovary	ovary
49	chr7:98729400-98731400	Enhancers	HMEC	breast
50	chr7:98729600-98731800	Enhancers	Colon Smooth Muscle	Colon

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