Variant report

Variant	rs574365997
Chromosome Location	chr2:40004248-40004249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39956738..39958463-chr2:40003948..40005760,2	K562	blood:
2	chr2:39961424..39963272-chr2:40004019..40005990,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking 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	8 gene(s)	inside rSNPs	diseases
3	nsv873890	chr2:39976810-40009041	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	7 gene(s)	inside rSNPs	diseases
4	nsv2696	chr2:39988381-40033288	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3380042	chr2:40004135-40004390	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39965200-40005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:39965200-40005400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39985000-40005000	Weak transcription	Colonic Mucosa	Colon
4	chr2:39985200-40005000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:39985400-40005200	Weak transcription	Fetal Brain Male	brain
6	chr2:39985800-40004800	Weak transcription	Fetal Brain Female	brain
7	chr2:39985800-40005000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:39985800-40005400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:39985800-40005400	Weak transcription	Lung	lung
10	chr2:39986200-40004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:39988000-40004400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:39992000-40004400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:39992000-40004600	Weak transcription	Fetal Kidney	kidney
14	chr2:39996400-40005000	Weak transcription	Stomach Mucosa	stomach
15	chr2:39996600-40004600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:39997000-40004400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:39997000-40004400	Weak transcription	Fetal Stomach	stomach
18	chr2:39997000-40004400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:39997000-40004800	Weak transcription	Fetal Intestine Small	intestine
20	chr2:39997000-40005200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:39997000-40005400	Weak transcription	Placenta	Placenta
22	chr2:39997000-40005800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:39998600-40004400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:39998600-40004400	Weak transcription	Liver	Liver
25	chr2:39999000-40004400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:39999000-40005400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:39999600-40005200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:39999800-40004400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:40000000-40004400	Weak transcription	Primary B cells from cord blood	blood
30	chr2:40000000-40004400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:40000000-40006000	Weak transcription	Spleen	Spleen
32	chr2:40000200-40004400	Weak transcription	Adipose Nuclei	Adipose
33	chr2:40000200-40004400	Weak transcription	Brain Angular Gyrus	brain
34	chr2:40000200-40004400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:40000200-40004600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:40000200-40004600	Weak transcription	Fetal Thymus	thymus
37	chr2:40000200-40004600	Weak transcription	NHLF	lung
38	chr2:40000200-40004800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:40000200-40005000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:40000200-40005000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:40000200-40005000	Weak transcription	Brain Substantia Nigra	brain
42	chr2:40000200-40006000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:40001000-40004600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:40001000-40005200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:40001000-40006600	Active TSS	GM12878-XiMat	blood
46	chr2:40001400-40004400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:40001400-40004400	Weak transcription	Aorta	Aorta
48	chr2:40001400-40004400	Weak transcription	NHDF-Ad	bronchial
49	chr2:40001400-40004400	Weak transcription	Osteobl	bone
50	chr2:40001400-40004600	Weak transcription	Psoas Muscle	Psoas

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