Variant report

Variant	rs371311147
Chromosome Location	chr1:197057072-197057073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197055379..197060712-chr1:197061077..197065456,6	K562	blood:
2	chr1:197055911..197057601-chr1:197071905..197074191,2	K562	blood:
3	chr1:197056210..197058041-chr1:197063459..197065342,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873067	chr1:197028634-197064496	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873068	chr1:197046782-197076194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197050400-197065600	Weak transcription	Stomach Mucosa	stomach
2	chr1:197050600-197059600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:197050600-197064400	Weak transcription	Fetal Heart	heart
4	chr1:197050800-197057200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:197051400-197063000	Strong transcription	HUVEC	blood vessel
6	chr1:197051400-197069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:197051600-197057200	Strong transcription	NHDF-Ad	bronchial
8	chr1:197051600-197065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:197051600-197066200	Strong transcription	Hela-S3	cervix
10	chr1:197051800-197061000	Strong transcription	Osteobl	bone
11	chr1:197051800-197069800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:197052000-197062000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:197052000-197064200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:197052200-197058000	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr1:197052200-197061400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:197052200-197062200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:197052200-197063200	Strong transcription	Primary hematopoietic stem cells	blood
18	chr1:197052200-197063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:197052200-197064600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:197052200-197065400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:197052200-197065400	Weak transcription	Fetal Brain Female	brain
22	chr1:197052200-197074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:197052200-197076200	Weak transcription	NHLF	lung
24	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
25	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:197052400-197057800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:197052400-197063000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:197052400-197063000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:197052400-197063200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:197052400-197065400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:197052400-197068800	Weak transcription	Primary T cells from cord blood	blood
33	chr1:197052400-197069200	Strong transcription	Fetal Thymus	thymus
34	chr1:197052600-197068600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:197052800-197063000	Strong transcription	A549	lung
36	chr1:197052800-197063200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:197052800-197067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:197053000-197060800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:197053000-197064800	Strong transcription	K562	blood
40	chr1:197053000-197066800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:197053000-197067000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:197053800-197060400	Strong transcription	Fetal Lung	lung
43	chr1:197054000-197059400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:197054000-197071200	Weak transcription	Brain Germinal Matrix	brain
45	chr1:197054200-197063600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:197054200-197066600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:197054200-197071200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
49	chr1:197054400-197058400	Weak transcription	HepG2	liver
50	chr1:197054600-197061000	Weak transcription	Fetal Muscle Leg	muscle

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