Variant report

Variant	rs1834191
Chromosome Location	chr1:75203908-75203909
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:75203296-75204035	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:75203436-75204071	GM12878	blood:	n/a	n/a
3	CTCF	chr1:75203800-75203950	GM12864	blood:	n/a	n/a
4	POLR2A	chr1:75203325-75204003	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
2	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:

Variant related genes	Relation type
CRYZ	TF binding region
ENSG00000162623	Chromatin interaction
ENSG00000116791	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1834191	CRYZ	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75199600-75206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:75199800-75207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:75200200-75205200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:75200200-75217600	Weak transcription	Stomach Mucosa	stomach
6	chr1:75200400-75210600	Weak transcription	Colonic Mucosa	Colon
7	chr1:75200400-75218400	Weak transcription	Fetal Heart	heart
8	chr1:75201000-75206000	Strong transcription	Fetal Lung	lung
9	chr1:75201200-75206200	Strong transcription	HSMM	muscle
10	chr1:75201200-75210600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:75201200-75212400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:75201400-75212800	Strong transcription	Primary B cells from cord blood	blood
13	chr1:75201400-75231800	Strong transcription	Dnd41	blood
14	chr1:75201600-75206200	Strong transcription	HUVEC	blood vessel
15	chr1:75202000-75208600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:75202200-75204200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:75202200-75205000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:75202200-75207400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:75202200-75207800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:75202200-75209000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:75202400-75204000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:75202400-75204000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr1:75202400-75204400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:75202400-75204400	Strong transcription	NHEK	skin
25	chr1:75202400-75204600	Strong transcription	Brain Anterior Caudate	brain
26	chr1:75202400-75205400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:75202400-75205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:75202400-75205800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:75202400-75206200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:75202400-75206200	Strong transcription	HSMMtube	muscle
31	chr1:75202400-75206400	Strong transcription	Brain Angular Gyrus	brain
32	chr1:75202400-75206600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:75202400-75207800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:75202400-75208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:75202400-75208000	Strong transcription	K562	blood
36	chr1:75202400-75208400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:75202400-75208600	Strong transcription	Brain Substantia Nigra	brain
38	chr1:75202400-75209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:75202400-75210000	Strong transcription	Fetal Thymus	thymus
40	chr1:75202400-75211400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:75202400-75212200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr1:75202400-75212800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:75202400-75212800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:75202400-75213000	Strong transcription	Liver	Liver
45	chr1:75202400-75219000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:75202400-75224000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr1:75202400-75226400	Strong transcription	Fetal Intestine Large	intestine
48	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
50	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood

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