Variant report

Variant	rs376296840
Chromosome Location	chr1:9973386-9973387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9884699..9887504-chr1:9972988..9975946,2	K562	blood:
2	chr1:9971162..9973726-chr1:9979028..9981341,2	MCF-7	breast:
3	chr1:9968103..9970707-chr1:9972255..9974509,2	MCF-7	breast:
4	chr1:9968043..9973723-chr1:10001891..10008599,10	K562	blood:
5	chr1:9969022..9974825-chr1:10002123..10006220,12	K562	blood:
6	chr1:9948461..9950463-chr1:9972142..9973829,2	K562	blood:

Variant related genes	Relation type
ENSG00000202415	Chromatin interaction
ENSG00000173614	Chromatin interaction
ENSG00000178585	Chromatin interaction
ENSG00000162441	Chromatin interaction
ENSG00000228150	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv534854	chr1:9964726-10001012	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1005461	chr1:9972921-10038862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
12	nsv534855	chr1:9972921-10038862	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9971200-9981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:9971400-9974200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:9971400-9974400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:9971400-9974400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:9971400-9975200	Enhancers	Fetal Intestine Large	intestine
6	chr1:9971400-9976400	Weak transcription	Brain Germinal Matrix	brain
7	chr1:9971400-9976600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:9971400-9982600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:9971400-9987400	Weak transcription	Fetal Stomach	stomach
10	chr1:9971400-9993600	Weak transcription	Aorta	Aorta
11	chr1:9971400-10002000	Weak transcription	Small Intestine	intestine
12	chr1:9971600-9973600	Enhancers	HepG2	liver
13	chr1:9971600-9974400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:9971600-9974400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:9971600-9974400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:9971600-9974400	Weak transcription	Liver	Liver
17	chr1:9971600-9974800	Enhancers	K562	blood
18	chr1:9971600-9976800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:9971600-9980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:9971600-9988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:9971600-9991200	Weak transcription	NHEK	skin
22	chr1:9971800-9985600	Weak transcription	Primary T cells from cord blood	blood
23	chr1:9971800-9986600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:9971800-9987000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:9971800-9987600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:9971800-9989000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:9971800-9991800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:9972600-9974200	Weak transcription	Fetal Heart	heart
29	chr1:9972600-9977600	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:9972600-9982400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:9972600-9988000	Weak transcription	Lung	lung
32	chr1:9972600-9988600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:9972600-10002200	Weak transcription	Right Atrium	heart
34	chr1:9972800-9974600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:9972800-9974600	Weak transcription	Fetal Lung	lung
36	chr1:9972800-9977200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:9972800-9989600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:9973000-9974200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:9973000-9974200	Weak transcription	Stomach Mucosa	stomach
40	chr1:9973000-9988400	Weak transcription	Duodenum Mucosa	Duodenum

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