Variant report

Variant	rs535319201
Chromosome Location	chr1:173703405-173703406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173683476..173686159-chr1:173702055..173703669,2	K562	blood:
2	chr1:173702803..173705029-chr1:173705548..173707166,2	K562	blood:
3	chr1:173701895..173703429-chr1:173835621..173837927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000076321	Chromatin interaction

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

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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
4	nsv946509	chr1:173703318-173711106	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 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	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
2	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
6	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
8	chr1:173687600-173706600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:173687800-173707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:173691200-173710000	Weak transcription	Hela-S3	cervix
11	chr1:173694600-173704000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:173694600-173706200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:173694600-173708000	Weak transcription	Fetal Heart	heart
14	chr1:173694600-173724800	Weak transcription	HMEC	breast
15	chr1:173694800-173718400	Weak transcription	NHDF-Ad	bronchial
16	chr1:173695000-173718000	Weak transcription	A549	lung
17	chr1:173695400-173704800	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:173695400-173721600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:173695600-173721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:173695800-173710000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:173695800-173725000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:173695800-173726000	Weak transcription	Esophagus	oesophagus
24	chr1:173695800-173729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:173696200-173726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:173696600-173721000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:173696600-173723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:173698000-173724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:173699600-173725800	Weak transcription	Fetal Kidney	kidney
30	chr1:173700400-173704800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:173702200-173703600	Strong transcription	Pancreas	Pancrea
32	chr1:173702200-173704200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:173702200-173704600	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:173702200-173705000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:173702200-173705000	Strong transcription	Lung	lung
36	chr1:173702200-173705400	Strong transcription	Thymus	Thymus
37	chr1:173702200-173705600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:173702400-173704000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:173702400-173704800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:173702400-173705400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:173702400-173705800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:173702400-173705800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:173702400-173706800	Strong transcription	Primary T cells from cord blood	blood
44	chr1:173702600-173704200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:173702600-173704200	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:173702600-173704400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:173702600-173704400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:173702600-173704400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr1:173702600-173704800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:173702600-173704800	Strong transcription	Rectal Mucosa Donor 31	rectum

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