Variant report

Variant	rs541222748
Chromosome Location	chr7:98738377-98738378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:98703474..98705646-chr7:98736902..98738750,2	K562	blood:
2	chr7:98702976..98705646-chr7:98736902..98739331,2	K562	blood:
3	chr7:98737351..98739969-chr7:98796808..98799355,2	MCF-7	breast:
4	chr7:98738148..98740026-chr7:98743359..98745839,2	MCF-7	breast:
5	chr7:98737541..98740084-chr7:98792661..98794883,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1792421	chr7:98737119-98752081	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 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	chr7:98722000-98739600	Weak transcription	Primary B cells from cord blood	blood
5	chr7:98722200-98738600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:98722400-98739400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:98723600-98738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:98723800-98738600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:98725000-98739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:98730800-98739400	Weak transcription	Right Ventricle	heart
11	chr7:98730800-98739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:98731000-98739600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:98731400-98738600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:98731800-98738400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:98731800-98739400	Weak transcription	Fetal Intestine Large	intestine
16	chr7:98732200-98738400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:98732200-98739400	Weak transcription	K562	blood
18	chr7:98732200-98739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:98732800-98738400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:98733800-98738600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:98733800-98738600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:98733800-98739400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:98734200-98738400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:98734400-98738800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:98734600-98739200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:98735200-98738400	Weak transcription	Small Intestine	intestine
27	chr7:98735200-98738600	Enhancers	Liver	Liver
28	chr7:98735200-98738600	Weak transcription	GM12878-XiMat	blood
29	chr7:98735200-98738600	Enhancers	HepG2	liver
30	chr7:98735200-98739400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:98735200-98739600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:98735200-98739600	Weak transcription	Lung	lung
33	chr7:98735400-98738400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:98735400-98739000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:98735400-98739200	Enhancers	Brain Substantia Nigra	brain
36	chr7:98735400-98739400	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:98735400-98739400	Weak transcription	Placenta	Placenta
38	chr7:98735400-98739400	Weak transcription	Left Ventricle	heart
39	chr7:98735400-98739400	Weak transcription	Psoas Muscle	Psoas
40	chr7:98735400-98739600	Weak transcription	Gastric	stomach
41	chr7:98735400-98739600	Weak transcription	Spleen	Spleen
42	chr7:98735600-98738400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:98735600-98738400	Enhancers	NHEK	skin
44	chr7:98735600-98738600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:98735600-98738600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:98735600-98738600	Weak transcription	Brain Germinal Matrix	brain
47	chr7:98735600-98738600	Weak transcription	Fetal Brain Female	brain
48	chr7:98735600-98738600	Weak transcription	Fetal Heart	heart
49	chr7:98735800-98738800	Weak transcription	HUVEC	blood vessel
50	chr7:98735800-98739000	Weak transcription	Fetal Brain Male	brain

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