Variant report

Variant	rs6948423
Chromosome Location	chr7:127306040-127306041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127290530..127295026-chr7:127301648..127308446,12	MCF-7	breast:
2	chr7:127289933..127293369-chr7:127304978..127309849,8	MCF-7	breast:
3	chr7:127304778..127307957-chr7:127309514..127312082,3	K562	blood:
4	chr7:127304778..127307957-chr7:127308207..127312906,6	K562	blood:
5	chr7:127305089..127308813-chr7:127315948..127319182,5	K562	blood:
6	chr7:127298406..127301093-chr7:127304305..127307205,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240790	Chromatin interaction
ENSG00000197157	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17151292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2402869	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs35223517	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking 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	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127293200-127322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:127294600-127307400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:127294800-127306200	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:127294800-127307400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
7	chr7:127295000-127307400	Weak transcription	Esophagus	oesophagus
8	chr7:127295000-127314000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:127295000-127314000	Weak transcription	Ovary	ovary
10	chr7:127295000-127314000	Weak transcription	Spleen	Spleen
11	chr7:127295000-127315600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:127295000-127318400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:127295000-127322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:127295200-127317800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:127295200-127321800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:127295400-127306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:127295400-127326400	Weak transcription	Thymus	Thymus
18	chr7:127296000-127308800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:127296200-127306800	Weak transcription	HSMMtube	muscle
20	chr7:127296200-127309200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:127296200-127318200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:127296200-127326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:127296600-127308800	Weak transcription	Right Atrium	heart
24	chr7:127296600-127314000	Weak transcription	Lung	lung
25	chr7:127296600-127314000	Weak transcription	Right Ventricle	heart
26	chr7:127297800-127311000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:127299000-127313400	Weak transcription	Gastric	stomach
28	chr7:127299000-127318600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:127299000-127334400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:127299200-127306200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:127299400-127306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:127299400-127308600	Strong transcription	K562	blood
33	chr7:127299600-127315800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:127300000-127306200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:127300400-127307000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:127300400-127307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:127300600-127306200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:127300600-127320400	Weak transcription	Placenta	Placenta
39	chr7:127300800-127319800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:127301600-127308600	Weak transcription	Dnd41	blood
41	chr7:127301600-127314000	Weak transcription	Fetal Lung	lung
42	chr7:127301800-127306600	Weak transcription	Brain Substantia Nigra	brain
43	chr7:127301800-127309200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr7:127301800-127315800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:127302000-127310200	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:127302200-127309200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:127302800-127309200	Strong transcription	Primary T cells from cord blood	blood
48	chr7:127304200-127306200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr7:127304200-127306200	Enhancers	HUVEC	blood vessel
50	chr7:127304400-127308800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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