Variant report

Variant	rs1204991
Chromosome Location	chr14:72201971-72201972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72199032..72202238-chr14:72211607..72214275,3	MCF-7	breast:
2	chr14:72201335..72203347-chr14:72205708..72208786,4	MCF-7	breast:
3	chr14:71787294..71788810-chr14:72200208..72202960,2	K562	blood:

Variant related genes	Relation type
ENSG00000197555	Chromatin interaction
ENSG00000259146	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7145668	1.00[AMR][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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72160200-72202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:72165200-72202000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:72182200-72207400	Strong transcription	GM12878-XiMat	blood
4	chr14:72185800-72206200	Strong transcription	Primary B cells from peripheral blood	blood
5	chr14:72187000-72204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:72187600-72206200	Strong transcription	Dnd41	blood
7	chr14:72187600-72207600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:72187800-72206200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:72188200-72206400	Strong transcription	Primary T cells from cord blood	blood
10	chr14:72188600-72206000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:72188800-72205800	Strong transcription	Fetal Intestine Large	intestine
12	chr14:72188800-72207600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:72189600-72204400	Strong transcription	Fetal Stomach	stomach
14	chr14:72189800-72205800	Strong transcription	Fetal Intestine Small	intestine
15	chr14:72189800-72206000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:72189800-72206000	Strong transcription	Spleen	Spleen
17	chr14:72189800-72206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:72189800-72206800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:72189800-72206800	Strong transcription	Primary B cells from cord blood	blood
20	chr14:72190000-72206000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:72190000-72206000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:72190200-72206000	Strong transcription	Placenta	Placenta
23	chr14:72190600-72214200	Weak transcription	K562	blood
24	chr14:72191400-72206000	Strong transcription	Liver	Liver
25	chr14:72191600-72206000	Strong transcription	Gastric	stomach
26	chr14:72191600-72206000	Strong transcription	Pancreas	Pancrea
27	chr14:72192400-72202000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:72193000-72207200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:72193400-72204000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:72193800-72204400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:72194200-72204200	Weak transcription	Fetal Brain Male	brain
32	chr14:72194200-72204400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:72194600-72214800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:72194800-72203600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:72195000-72205400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:72195000-72206400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:72195200-72205600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr14:72195200-72206000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:72195200-72206000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:72195200-72206600	Strong transcription	Thymus	Thymus
41	chr14:72195400-72206000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:72195800-72204200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr14:72196000-72204400	Strong transcription	Brain Cingulate Gyrus	brain
44	chr14:72196000-72205800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:72196000-72206000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr14:72196000-72206000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:72196000-72206000	Strong transcription	Fetal Thymus	thymus
48	chr14:72196000-72206000	Strong transcription	Lung	lung
49	chr14:72196200-72204600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:72196200-72204600	Strong transcription	Fetal Muscle Leg	muscle

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